Raras
Buscar doenças, sintomas, genes...
Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito
ORPHA:2324CID-10 · Q87.5CID-11 · LD24.KYOMIM 259690DOENÇA RARA
AudiçãoInício neonatalHerança AR
Sinônimos clínicos: Síndrome Kaler-Garrity-Stern

A síndrome de Kaler-Garrity-Stern é uma síndrome rara, descrita em duas irmãs de origem menonita, caracterizada por cabelos ralos, densidade óssea baixa (ossos mais frágeis), deficiência intelectual, pequenas alterações faciais, articulações frouxas e flacidez muscular. Desde 1992, não houve mais descrições dessa condição na literatura médica.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de Kaler-Garrity-Stern é uma síndrome rara, descrita em duas irmãs de origem menonita, caracterizada por cabelos ralos, densidade óssea baixa (ossos mais frágeis), deficiência intelectual, pequenas alterações faciais, articulações frouxas e flacidez muscular. Desde 1992, não houve mais descrições dessa condição na literatura médica.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
CID-10: Q87.5
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
6 sintomas
😀
Face
5 sintomas
🧠
Neurológico
5 sintomas
🧬
Pele e cabelo
3 sintomas
👂
Ouvidos
2 sintomas
📏
Crescimento
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

100%prev.
Hipotonia
Frequência: 20/20
55%prev.
Osteopenia
Frequente (79-30%)
55%prev.
Hipertelorismo
Frequente (79-30%)
55%prev.
Bossas frontais
Frequente (79-30%)
55%prev.
Cabelo fino
Frequente (79-30%)
55%prev.
Atraso no desenvolvimento da fala e da linguagem
Frequente (79-30%)
28sintomas
Muito frequente (1)
Frequente (12)
Ocasional (10)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

HipotoniaHypotonia
Frequência: 20/20100%
Osteopenia
Frequente (79-30%)55%
HipertelorismoHypertelorism
Frequente (79-30%)55%
Bossas frontaisFrontal bossing
Frequente (79-30%)55%
Cabelo finoFine hair
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026103 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito

Centros para Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

💬Melhor nível de evidência: Opinião
Timeline de publicações
0 papers (10 anos)
#1

Trusting your gut: a hairy situation-gastric trichobezoar case report.

Frontiers in pediatrics2026

Trichobezoares são massas raras de cabelo ingerido, mais comuns em meninas jovens, que podem causar dor abdominal e perda de peso inexplicável. Seu diagnóstico é desafiador, pois exames de imagem iniciais frequentemente não são conclusivos, sendo a esofagogastroduodenoscopia (EGD) crucial para a identificação definitiva. Médicos e pais devem considerar o tricobezoar no diagnóstico diferencial de crianças, especialmente meninas com sintomas gastrointestinais inespecíficos e sem sinais óbvios como alopecia ou histórico psiquiátrico, para evitar atrasos no tratamento.

🇧🇷 traduzido
#2

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

European journal of human genetics : EJHG2026 Mar 11

Este estudo obteve sucesso em diagnosticar geneticamente 100% das famílias com albinismo oculocutâneo (OCA) usando sequenciamento de nova geração, ressaltando a importância de uma investigação molecular aprofundada para pacientes e médicos. Os resultados revelaram que uma parte dos casos era, na verdade, síndromes como a de Hermansky-Pudlak (HPS), que exigem atenção médica ampliada devido a outros sintomas, e identificaram uma nova variante genética que pode explicar casos de OCA anteriormente sem diagnóstico. Para pacientes, isso significa um diagnóstico mais preciso e direcionamento para cuidados adequados, enquanto para médicos, sublinha a necessidade de exames genéticos completos para classificar corretamente e gerenciar as diferentes formas de albinismo.

🇧🇷 traduzido
#3

Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

Annals of the New York Academy of Sciences2026 Mar

A Síndrome Tricodentoóssea (TDO), causada por mutações no gene DLX3, afeta cabelo, dentes e ossos, e este estudo identificou novas mutações que expandem o conhecimento da doença. Para pacientes e médicos, é relevante que o estudo sugira que a variabilidade dos sintomas na TDO – manifestando-se predominantemente em problemas dentários ou anomalias no cabelo e esmalte – pode ser explicada pelos diferentes efeitos das mutações no DLX3. Além disso, a pesquisa revelou que o DLX3 ativa diretamente o gene WNT10A, um mecanismo fundamental que explica a origem dos defeitos na dentina e do taurodontismo.

🇧🇷 traduzido
#4

Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.

Health science reports2026 Mar

Este artigo científico **não aborda** a síndrome Osteopenia-deficiência intelectual-cabelos ralos. Em vez disso, ele revisa associações entre distúrbios reprodutivos comuns – como endometriose, síndrome do ovário policístico (SOP), baixa reserva ovariana e baixa qualidade do sêmen – e diversas características físicas, mentais, de personalidade e sociais. Para pacientes e médicos, os achados indicam que esses distúrbios estão frequentemente ligados a sinais físicos específicos (como características corporais e da pele), desafios cognitivos (especialmente na SOP), aspectos de personalidade e, de forma consistente, a altos níveis de ansiedade, estresse e depressão, além de impactos socioeconômicos. Isso sugere que a avaliação e o manejo dessas condições reprodutivas devem considerar um perfil mais abrangente de características do indivíduo.

🇧🇷 traduzido
#5

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

BMJ case reports2026 Feb 20

A Hipoplasia Cartilagem-Cabelo (CHH) é uma displasia esquelética autossômica recessiva rara, causada por variantes no gene RMRP, que se manifesta com baixa estatura, anormalidades ósseas metafisárias, hipoplasia capilar e disfunção imune. Para pacientes, é crucial entender que é uma condição hereditária com impacto significativo na qualidade de vida, e o aconselhamento genético é fundamental para compreender a doença e seu prognóstico. Para médicos, o ultrassom pré-natal desempenha um papel chave na detecção precoce de casos suspeitos, enquanto o diagnóstico definitivo é feito por teste genético ao nascimento.

🇧🇷 traduzido

Publicações recentes

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📚 EuropePMCmostrando 199

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Case series of pediatric gastric trichobezoars: diagnostic challenges, management outcomes, and the imperative for psychiatric follow-up.

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New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

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Trusting your gut: a hairy situation-gastric trichobezoar case report.

Frontiers in pediatrics
2026

Rapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.

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Identification of a novel PLS1 heterozygous variant causing autosomal dominant non-syndromic hearing loss.

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Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.

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Successful Treatment of Refractory Erythroderma with Abrocitinib: A Case Report.

Case reports in dermatology
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Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

European journal of human genetics : EJHG
2026

First trichogram characterization of hair shaft abnormalities in ichthyosis prematurity syndrome.

Italian journal of dermatology and venereology
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Early Childhood-Onset Prosopometamorphopsia Following Respiratory Tract Infection With Serological Evidence of Mycoplasma pneumoniae Exposure: A Pediatric Case Report.

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Wrong Place at the Right Height: Scalp Orf in a Toddler With Dense Dermal Neutrophilic Infiltrate Mimicking Sweet Syndrome.

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Bisphenol S and Neurological Health: An Integrated Overview of Neurotoxicity and Underlying Mechanisms.

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HaloTag-based approach to quantify subcellular localization of TRPV3 channels.

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Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.

JNMA; journal of the Nepal Medical Association
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A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.

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Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.

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Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

Annals of the New York Academy of Sciences
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Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.

Health science reports
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Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Frontiers in immunology
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Pathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
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Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.

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Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.

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A mixed-method analysis of health literacy and indicators of well-being in women with polycystic ovary syndrome across the lifespan.

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Glucagon-Like Peptide-1 Receptor Agonists as Adjunctive Therapy for Hidradenitis Suppurativa in Patients With Overweight/Obesity: A Narrative Review of Efficacy, Safety, and Quality-of-Life Outcomes.

International journal of dermatology
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Rapunzel Syndrome in a Pediatric Female Patient: A Case Report of Trichobezoar Causing Intestinal Obstruction.

Cureus
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Stereophotogrammetry as a Precise and Accurate Method for Facial Analysis in Patients With Cleft Lip and Palate Undergoing Orthognathic Surgery.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
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Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

BMJ case reports
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A case report of arsenic-induced peripheral neuropathy misdiagnosed as Guillain-Barré syndrome.

Frontiers in toxicology
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Skin deep: dermatologic challenges in PCOS through the female lifespan.

Expert review of endocrinology &amp; metabolism
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Inhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.

The Journal of allergy and clinical immunology
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Microbial Dysbiosis and Pathogenic Interplay in the Gut-Vaginal Axis: Implications for Polycystic Ovary Syndrome: A Critical Review.

Current microbiology
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Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.

Case reports in obstetrics and gynecology
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Rapunzel syndrome: Trichobezoar-induced pancreatitis unraveled.

JPGN reports
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Symmetrical Drug-Related Intertriginous and Flexural Exanthema (SDRIFE)-Like Presentation in a Case of Systemic Contact Dermatitis to Paraphenylenediamine (PPD).

Cureus
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Abnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice.

Communications biology
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Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.

Molecular genetics and metabolism
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Myosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development.

The Journal of physiology
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Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

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Successful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.

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Notch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.

bioRxiv : the preprint server for biology
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Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation.

Cureus
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Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.

Cureus
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Unilateral accessory tragi in a cat.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
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Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.

Molecular &amp; cellular proteomics : MCP
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Post-COVID-19 condition after SARS-CoV-2 infection during pregnancy: a population-based questionnaire cohort study.

Frontiers in medicine
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Atypical Presentation of Morphoea in an Elderly Male: Diagnostic Challenges in the Absence of Autoantibodies and Malignancy.

Cureus
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Two-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.

Nature communications
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A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.

Hearing research
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Extensive Type V Truncal Aplasia Cutis Congenita in a Surviving Twin With Fetus Papyraceus: A Case Report.

Case reports in pediatrics
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Repetitive and restricted behaviors, habits, body-focused repetitive behaviors, and motor stereotypies.

Handbook of clinical neurology
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Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report.

Clinical case reports
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Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.

Cureus
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Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.

Journal of the American Academy of Dermatology
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Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.

Journal of the American Academy of Dermatology
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Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

European journal of medical genetics
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Aesthetically relevant symptoms of menopause transition: Impact and approach to management.

Clinics in dermatology
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Dysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.

Molecular therapy : the journal of the American Society of Gene Therapy
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Sézary syndrome arising from cutaneous epitheliotropic T-cell lymphoma, resembling human folliculotropic mycosis fungoides, in a dog.

Journal of comparative pathology
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Diagnosis and treatment of cutaneous adverse effects of targeted therapy, antibody-drug conjugates, and immunotherapy in cancer patients: a national consensus statement by the Spanish Society of Medical Oncology and the Spanish Academy of Dermatology and Venereology.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2026

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

American journal of human genetics
2026

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Scientific reports
2026

Characteristics of infant deaths with positive hair toxicology.

Forensic science, medicine, and pathology
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Health-related quality of life (HRQoL) and associated factors among women with polycystic ovary syndrome (PCOS) attending an infertility center in Nepal: a cross-sectional study.

BMC women's health
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Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.

Clinical genetics
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A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child.

Skin appendage disorders
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Risk factors for sacrococcygeal pilonidal sinus: a systematic review and meta-analysis supplemented by genetic causal assessment.

Frontiers in surgery
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The Birt-Hogg-Dubé syndrome gene folliculin (FLCN) operates as a negative regulator of human hair follicle growth ex vivo.

The Journal of investigative dermatology
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Beyond the Follicle: A Narrative Review on How Systemic Diseases and Drugs Affect Alopecia.

Pharmaceutical medicine
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Chronic adrenocortical activity and onset of Takotsubo syndrome.

European journal of cardiovascular nursing
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Cronkhite-Canada syndrome after corticosteroid and mesalazine treatment: A case report and 3-year follow-up.

Medicine
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Hair cortisol outperforms urinary free cortisol in diagnosing Cushing's syndrome: a cross-sectional study.

Hormones (Athens, Greece)
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ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Journal of genetics and genomics = Yi chuan xue bao
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De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.

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Overcoming genetic drivers in alopecia areata: Hair regrowth in a patient with AIRE gene mutation (APECED syndrome) treated with ruxolitinib.

Clinical and experimental dermatology
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ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

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Craniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.

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Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Clinical case reports
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Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.

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Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.

The Journal of pathology
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Trichobezoar Causing Obstruction of a Percutaneous Endoscopic Gastrostomy (PEG) Feeding Tube: A Case Report.

Cureus
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Skin Fragility-Woolly Hair Syndrome (SFWHS): A Case Report.

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Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.

JAMA dermatology
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Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Annals of medicine and surgery (2012)
2026

Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?

Experimental dermatology
2026

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.

Medicine
2025

Netherton Syndrome: A Systematic Review of the Challenges of Diagnosis and Treatment.

Cureus
2025

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Tremor and other hyperkinetic movements (New York, N.Y.)
2026

Clinical, histopathological and genetic features of a cutaneous adnexal polycystic syndrome in Lykoi cats: a prospective study of 10 cases.

Journal of feline medicine and surgery
2025

Ethical considerations in counseling patients on cancer risks from chemical hair relaxers.

Journal of the American Academy of Dermatology
2025

"Rare but Not Forgotten Five Cases of Swyer Syndrome": Case Series and Literature Review.

Journal of obstetrics and gynaecology of India
2026

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images.

Clinical case reports
2025

Hair Silicon as a Long-Term Mineral Exposure Marker in Coronary Artery Disease: A Pilot Study.

Nutrients
2025

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

Clinical, cosmetic and investigational dermatology
2025

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Journal of medical case reports
2026

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

Journal of cosmetic dermatology
2025

Minoxidil ameliorates myelodysplastic syndrome by targeting Wnt4 while sparing normal hematopoiesis.

Cell communication and signaling : CCS
2026

Long COVID: a review of mechanisms and treatment modalities.

Inflammopharmacology
2025

Low-Dose Oral Minoxidil as Treatment for COVID-19-Related Telogen Effluvium: Results From a Retrospective Series of 69 Patients.

Actas dermo-sifiliograficas
2025

P23 Scurvy presenting as an unusual petechial rash in a patient with anorexia nervosa.

The British journal of dermatology
2025

Genetic Syndromes Including Intellectual Disability and Different Cancer Types.

Molecular syndromology
2025

Adverse Food Reactions in Dogs and Cats.

The Veterinary clinics of North America. Small animal practice
2025

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review.

BMC pediatrics
2025

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Frontiers in medicine
2025

Pediatric Rapunzel Syndrome Presenting With Jejunojejunal Intussusception Managed Surgically: A Rare Case Report.

Clinical case reports
2025

Telogen effluvium in covid-19 patients: A cross-sectional survey.

JPMA. The Journal of the Pakistan Medical Association
2025

Pseudoparalysis in Infantile Vitamin B12 Deficiency.

Annals of Indian Academy of Neurology
2025

Surgical Repair of a Partial Penile Amputation From a Hair Tourniquet Under Local Anesthesia.

Cureus
2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Case reports in dentistry
2026

Sacral dimple: clinical perspectives of lesions hidden beneath the skin.

Clinical and experimental pediatrics
2025

Fourth Nerve Palsy After Hair Replacement Surgery and Prolonged Vertical Position in a Patient With Mega-Cisterna-Magna: Report of a Case.

Cureus
2026

Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.

Journal of diabetes investigation
2025

Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.

Frontiers in cellular neuroscience
2025

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population.

Skin health and disease
2026

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.

The Journal of biological chemistry
2025

Morgellons-like Disease of the Scalp.

International journal of trichology
2025

Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.

Molecular vision
2025

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Genes
2025

Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).

Ophthalmic genetics
2025

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Altered Pore Composition and Flexibility in a Deafness-Associated TMC1 Variant: Insights from Molecular Dynamics Simulations.

ACS chemical neuroscience
2025

Clear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.

Cureus
2025

Co-occurrence of two monogenic diseases within a single family.

European journal of dermatology : EJD
2025

Revolutionizing regeneration: stem cells transform treatment of hidrotic ectodermal dysplasia (Clouston syndrome).

Regenerative medicine
2026

Prevalence of dermatologic side effects of mood stabilizers in bipolar disorder: A systematic review and meta-analysis.

Journal of psychiatric research
2025

Severe lupus vasculitic neuropathy.

Practical neurology
2026

Cannabis use and cardiometabolic risk in schizophrenia.

Schizophrenia research
2025

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.

The journal of gene medicine
2025

Cohesin protein Smc3 influences kinocilial structure and function.

Biology open
2025

Screened prevalence of trichotillomania and its association with self-esteem among Saudi medical students: a cross-sectional study.

Frontiers in psychiatry
2025

Idiopathic isolated adrenocorticotropic hormone deficiency combined with testicular germ cell tumor: Case report.

Medicine
2025

Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.

World journal of clinical pediatrics
2025

Episodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report.

Cureus
2025

Oral prolonged-release dienogest 2 mg and ethinylestradiol 0.02 mg in a 24/4-day regimen for polycystic ovary syndrome-associated hirsutism: a double-blind, randomised, placebo-controlled trial.

EClinicalMedicine
2025

An unusual presentation of longstanding atrophic Hashimoto's thyroiditis: challenges in a resource-limited setting.

Endocrinology, diabetes &amp; metabolism case reports
2025

Associations Between Iron Metabolism and Obstructive Sleep Apnea Severity in Female and Male Individuals With Self-Reported Androgenetic Alopecia: A Propensity-Score Matching Analysis From the EPISONO Database.

Journal of sleep research
2026

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.

Radiology case reports
2026

Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.

Virchows Archiv : an international journal of pathology
2025

Strangulated hair syndrome of the clitoral hood: recurrent and necrotic presentation.

BMJ case reports
2025

Unusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.

Dermatology reports
2025

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Journal of molecular neuroscience : MN
2025

Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.

Acta dermatovenerologica Croatica : ADC
2025

A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.

Molecular syndromology
2025

Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.

Frontiers in endocrinology
2025

Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.

Biomedical reports
2025

Audiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

International journal of molecular sciences
2025

Wispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome.

JAAD case reports
2025

Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.

Case reports in genetics
2025

Griscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family.

Cureus
2025

A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.

Scientific reports
2025

Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Feasibility and usefulness of in-hospital and at-home salivary sampling in healthy dogs and trilostane-treated dogs with Cushing's syndrome: a prospective observational study.

BMC veterinary research
2025

Systemic organophosphate poisoning in child following anti-lice lotion application.

Journal of analytical toxicology
2025

Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab.

The Journal of dermatological treatment
2026

Exploring the frequency and autoimmune associations of lichen planopilaris.

Italian journal of dermatology and venereology
2025

A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.

Case reports in endocrinology
2025

Design and Protocol of the Biobank for Metabolic Syndrome Consequences (BMSC): A Prospective Cohort Study in Northwest China.

Clinical epidemiology
2025

Low-dose oral minoxidil for the management of vismodegib-induced alopecia.

JAAD case reports
2025

Gastric teratoma in a 7-month-old infant: a case report and review of the literature.

Journal of medical case reports
2025

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

Molecular genetics &amp; genomic medicine
2025

The Role of the Glass Ceiling Syndrome in Female Healthcare Workers and Its Association With Telogen Effluvium.

Journal of cosmetic dermatology
2025

HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype.

Frontiers in immunology
2025

Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.

Frontiers in immunology
2025

Chemical pollutant mixtures associated with metabolic health: Results from the European Health Examination Survey in Luxembourg.

The Science of the total environment
2026

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

American journal of medical genetics. Part A
2025

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

Translational psychiatry
2025

LOXHD1b knockout alters swimming behavior in zebrafish.

Cell and tissue research
2025

Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.

Case reports in dermatology
2025

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

European journal of pediatrics
2025

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.

Journal of cellular and molecular medicine
2025

Van Wyk-Grumbach syndrome: a case report and review of the literature.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2025

Increased Weight Loss With the Combination of Levoketoconazole and Semaglutide in a Patient With Mild Hypercortisolism.

AACE endocrinology and diabetes
2025

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

BMC pediatrics
2025

Bi-directional association between female pattern hair loss and polycystic ovary syndrome: A systematic review and meta-analysis.

JAAD international
2025

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.

Clinical and experimental pediatrics
2025

Patients' knowledge, attitude, and practice regarding alopecia: a cross-sectional study in Hebei, China.

BMC public health
2025

Immunohistochemical Characterization of JAK Family Expression in the Primary Inflammatory Infiltrate of Lichen Planopilaris and Folliculitis Decalvans, With an Exploratory Clinical Assessment of Oral JAK Inhibitors.

International journal of dermatology
2025

A machine learning approach for non-invasive PCOS diagnosis from ultrasound and clinical features.

Scientific reports
2025

Use of Glucagon-Like Peptide-1 (GLP-1) Agonists in Modulating Preexisting Dermatologic Disease: A Systematic Review.

Cureus
2025

Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer-Vinson Syndrome.

Clinical case reports
2025

Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.

The Journal of physiology
2026

Treatment of Short Anagen Syndrome With Low-Dose Oral Minoxidil.

Pediatric dermatology
2025

Xerostomia as a Rare Adverse Effect of Low-Dose Oral Minoxidil: A Case Report With Recurrence After Rechallenge.

Clinical case reports
2025

Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Developmental dynamics : an official publication of the American Association of Anatomists
2026

AAV-mediated exon skipping therapy for Usher syndrome, type 2A.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

A narrative review of Catamenial dermatology: A glimpse into the menstrual symphony.

Indian journal of dermatology, venereology and leprology
2026

Tetrahydroxy stilbene glucoside promotes hair regeneration by inducing Th22 cell differentiation.

Journal of ethnopharmacology
2025

The predawn dilemma in adeno-associated virus-based gene therapies for hereditary deafness.

American journal of stem cells
2026

Single-cell RNA sequencing reveals the transcriptomic landscape of and potential targets for large and giant congenital melanocytic naevi.

The British journal of dermatology
2025

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.

Frontiers in molecular neuroscience
2026

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

American journal of medical genetics. Part A
2025

Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

Journal of medical genetics
2025

Isolated Hemihyperplasia in Adolescence: A Case Report.

Cureus

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Trusting your gut: a hairy situation-gastric trichobezoar case report.
    Frontiers in pediatrics· 2026· PMID 41837189mais citado
  2. Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
    European journal of human genetics : EJHG· 2026· PMID 41807736mais citado
  3. Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
    Annals of the New York Academy of Sciences· 2026· PMID 41774401mais citado
  4. Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
    Health science reports· 2026· PMID 41767346mais citado
  5. Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
    BMJ case reports· 2026· PMID 41720498mais citado
  6. Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
    J Minim Access Surg· 2026· PMID 41859946recente
  7. Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
    Am J Med Genet A· 2026· PMID 41851022recente
  8. Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.
    Ann Plast Surg· 2026· PMID 41848703recente
  9. Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.
    J Clin Res Pediatr Endocrinol· 2026· PMID 41848173recente
  10. Case series of pediatric gastric trichobezoars: diagnostic challenges, management outcomes, and the imperative for psychiatric follow-up.
    Int J Surg Case Rep· 2026· PMID 41847104recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2324(Orphanet)
  2. OMIM OMIM:259690(OMIM)
  3. MONDO:0009814(MONDO)
  4. GARD:354(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782182(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito
Compêndio · Raras BR

Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito

ORPHA:2324 · MONDO:0009814
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1850140
Wikidata
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