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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
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
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
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
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.
Publicações mais relevantes
Trusting your gut: a hairy situation-gastric trichobezoar case report.
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.
🇧🇷 traduzidoOculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
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.
🇧🇷 traduzidoDifferential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
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.
🇧🇷 traduzidoAssociations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
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.
🇧🇷 traduzidoFamilial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
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.
🇧🇷 traduzidoPublicações recentes
Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.
💬 OpiniãoShort Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.
Case series of pediatric gastric trichobezoars: diagnostic challenges, management outcomes, and the imperative for psychiatric follow-up.
📚 EuropePMCmostrando 199
Post-finasteride syndrome: survey of dermatologists from the Spanish Hair and Nail Disorders Group.
Actas dermo-sifiliograficasLaparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
Journal of minimal access surgeryAtypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
American journal of medical genetics. Part AImplications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.
Annals of plastic surgeryShort Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.
Journal of clinical research in pediatric endocrinologyCase series of pediatric gastric trichobezoars: diagnostic challenges, management outcomes, and the imperative for psychiatric follow-up.
International journal of surgery case reportsNew insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
Journal of pediatric endocrinology & metabolism : JPEMTrusting your gut: a hairy situation-gastric trichobezoar case report.
Frontiers in pediatricsRapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.
CureusIdentification of a novel PLS1 heterozygous variant causing autosomal dominant non-syndromic hearing loss.
Experimental and therapeutic medicineType 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.
The Journal of the Association of Physicians of IndiaSuccessful Treatment of Refractory Erythroderma with Abrocitinib: A Case Report.
Case reports in dermatologyOculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
European journal of human genetics : EJHGFirst trichogram characterization of hair shaft abnormalities in ichthyosis prematurity syndrome.
Italian journal of dermatology and venereologyEarly Childhood-Onset Prosopometamorphopsia Following Respiratory Tract Infection With Serological Evidence of Mycoplasma pneumoniae Exposure: A Pediatric Case Report.
CureusWrong Place at the Right Height: Scalp Orf in a Toddler With Dense Dermal Neutrophilic Infiltrate Mimicking Sweet Syndrome.
Journal of cutaneous pathologyBisphenol S and Neurological Health: An Integrated Overview of Neurotoxicity and Underlying Mechanisms.
Molecular neurobiologyHaloTag-based approach to quantify subcellular localization of TRPV3 channels.
Biophysical journalGriscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.
JNMA; journal of the Nepal Medical AssociationA theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
Acta oto-laryngologicaScalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
Plastic and reconstructive surgery. Global openDifferential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
Annals of the New York Academy of SciencesAssociations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
Health science reportsCase Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.
Frontiers in immunologyPathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyMucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.
Journal of clinical research in pediatric endocrinologyClinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.
Immunity, inflammation and diseaseA mixed-method analysis of health literacy and indicators of well-being in women with polycystic ovary syndrome across the lifespan.
Therapeutic advances in reproductive healthGlucagon-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 dermatologyRapunzel Syndrome in a Pediatric Female Patient: A Case Report of Trichobezoar Causing Intestinal Obstruction.
CureusStereophotogrammetry 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 SurgeonsFamilial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
BMJ case reportsA case report of arsenic-induced peripheral neuropathy misdiagnosed as Guillain-Barré syndrome.
Frontiers in toxicologySkin deep: dermatologic challenges in PCOS through the female lifespan.
Expert review of endocrinology & metabolismInhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.
The Journal of allergy and clinical immunologyMicrobial Dysbiosis and Pathogenic Interplay in the Gut-Vaginal Axis: Implications for Polycystic Ovary Syndrome: A Critical Review.
Current microbiologyKallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.
Case reports in obstetrics and gynecologyRapunzel syndrome: Trichobezoar-induced pancreatitis unraveled.
JPGN reportsSymmetrical Drug-Related Intertriginous and Flexural Exanthema (SDRIFE)-Like Presentation in a Case of Systemic Contact Dermatitis to Paraphenylenediamine (PPD).
CureusAbnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice.
Communications biologyWhole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Molecular genetics and metabolismMyosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development.
The Journal of physiologyGenotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Molecular syndromologySuccessful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.
Pediatric dermatologyNotch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.
bioRxiv : the preprint server for biologyGeneralised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation.
CureusPrimary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome.
CureusUnilateral accessory tragi in a cat.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncCharacterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.
Molecular & cellular proteomics : MCPPost-COVID-19 condition after SARS-CoV-2 infection during pregnancy: a population-based questionnaire cohort study.
Frontiers in medicineAtypical Presentation of Morphoea in an Elderly Male: Diagnostic Challenges in the Absence of Autoantibodies and Malignancy.
CureusTwo-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.
Nature communicationsA porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.
Hearing researchExtensive Type V Truncal Aplasia Cutis Congenita in a Surviving Twin With Fetus Papyraceus: A Case Report.
Case reports in pediatricsRepetitive and restricted behaviors, habits, body-focused repetitive behaviors, and motor stereotypies.
Handbook of clinical neurologyRare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report.
Clinical case reportsWeeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.
CureusCutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.
Journal of the American Academy of DermatologyCutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.
Journal of the American Academy of DermatologyNeonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical geneticsAesthetically relevant symptoms of menopause transition: Impact and approach to management.
Clinics in dermatologyDysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.
Molecular therapy : the journal of the American Society of Gene TherapySézary syndrome arising from cutaneous epitheliotropic T-cell lymphoma, resembling human folliculotropic mycosis fungoides, in a dog.
Journal of comparative pathologyDiagnosis 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 & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoDominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
American journal of human geneticsGJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.
Scientific reportsCharacteristics of infant deaths with positive hair toxicology.
Forensic science, medicine, and pathologyHealth-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 healthChromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.
Clinical geneticsA Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child.
Skin appendage disordersRisk factors for sacrococcygeal pilonidal sinus: a systematic review and meta-analysis supplemented by genetic causal assessment.
Frontiers in surgeryThe Birt-Hogg-Dubé syndrome gene folliculin (FLCN) operates as a negative regulator of human hair follicle growth ex vivo.
The Journal of investigative dermatologyBeyond the Follicle: A Narrative Review on How Systemic Diseases and Drugs Affect Alopecia.
Pharmaceutical medicineChronic adrenocortical activity and onset of Takotsubo syndrome.
European journal of cardiovascular nursingCronkhite-Canada syndrome after corticosteroid and mesalazine treatment: A case report and 3-year follow-up.
MedicineHair cortisol outperforms urinary free cortisol in diagnosing Cushing's syndrome: a cross-sectional study.
Hormones (Athens, Greece)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 baoDe Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.
JAMA dermatologyOvercoming genetic drivers in alopecia areata: Hair regrowth in a patient with AIRE gene mutation (APECED syndrome) treated with ruxolitinib.
Clinical and experimental dermatologyercc6 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.
Human molecular geneticsCraniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.
StomatologijaOral finasteride use and sexual adverse events: signal detection from disproportionality analyses of data from the United States Food and Drug Administration Adverse Event Reporting System.
The Journal of dermatological treatmentOccipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.
Clinical case reportsExpansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.
Molecular neurobiologyDysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.
The Journal of pathologyTrichobezoar Causing Obstruction of a Percutaneous Endoscopic Gastrostomy (PEG) Feeding Tube: A Case Report.
CureusSkin Fragility-Woolly Hair Syndrome (SFWHS): A Case Report.
CureusValidation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.
JAMA dermatologyBilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.
Annals of medicine and surgery (2012)Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?
Experimental dermatologyGriscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
MedicineNetherton Syndrome: A Systematic Review of the Challenges of Diagnosis and Treatment.
CureusLongitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.
Tremor and other hyperkinetic movements (New York, N.Y.)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 surgeryEthical considerations in counseling patients on cancer risks from chemical hair relaxers.
Journal of the American Academy of Dermatology"Rare but Not Forgotten Five Cases of Swyer Syndrome": Case Series and Literature Review.
Journal of obstetrics and gynaecology of IndiaNetherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images.
Clinical case reportsHair Silicon as a Long-Term Mineral Exposure Marker in Coronary Artery Disease: A Pilot Study.
NutrientsAn Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.
Clinical, cosmetic and investigational dermatologyA 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 reportsAn Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.
Journal of cosmetic dermatologyMinoxidil ameliorates myelodysplastic syndrome by targeting Wnt4 while sparing normal hematopoiesis.
Cell communication and signaling : CCSLong COVID: a review of mechanisms and treatment modalities.
InflammopharmacologyLow-Dose Oral Minoxidil as Treatment for COVID-19-Related Telogen Effluvium: Results From a Retrospective Series of 69 Patients.
Actas dermo-sifiliograficasP23 Scurvy presenting as an unusual petechial rash in a patient with anorexia nervosa.
The British journal of dermatologyGenetic Syndromes Including Intellectual Disability and Different Cancer Types.
Molecular syndromologyAdverse Food Reactions in Dogs and Cats.
The Veterinary clinics of North America. Small animal practiceRare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review.
BMC pediatricsCase Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.
Frontiers in medicinePediatric Rapunzel Syndrome Presenting With Jejunojejunal Intussusception Managed Surgically: A Rare Case Report.
Clinical case reportsTelogen effluvium in covid-19 patients: A cross-sectional survey.
JPMA. The Journal of the Pakistan Medical AssociationPseudoparalysis in Infantile Vitamin B12 Deficiency.
Annals of Indian Academy of NeurologySurgical Repair of a Partial Penile Amputation From a Hair Tourniquet Under Local Anesthesia.
CureusDental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.
Case reports in dentistrySacral dimple: clinical perspectives of lesions hidden beneath the skin.
Clinical and experimental pediatricsFourth Nerve Palsy After Hair Replacement Surgery and Prolonged Vertical Position in a Patient With Mega-Cisterna-Magna: Report of a Case.
CureusEfficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.
Journal of diabetes investigationTmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.
Frontiers in cellular neuroscienceAutosomal recessive woolly hair syndrome: a series of eight patients in an Indian population.
Skin health and diseaseA truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.
The Journal of biological chemistryMorgellons-like Disease of the Scalp.
International journal of trichologyPhenotype-genotype correlation of patients with congenital cataracts and hair anomalies.
Molecular visionSevere Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.
GenesPhenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
Ophthalmic geneticsCalcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieAltered Pore Composition and Flexibility in a Deafness-Associated TMC1 Variant: Insights from Molecular Dynamics Simulations.
ACS chemical neuroscienceClear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.
CureusCo-occurrence of two monogenic diseases within a single family.
European journal of dermatology : EJDRevolutionizing regeneration: stem cells transform treatment of hidrotic ectodermal dysplasia (Clouston syndrome).
Regenerative medicinePrevalence of dermatologic side effects of mood stabilizers in bipolar disorder: A systematic review and meta-analysis.
Journal of psychiatric researchSevere lupus vasculitic neuropathy.
Practical neurologyCannabis use and cardiometabolic risk in schizophrenia.
Schizophrenia researchDe Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.
The journal of gene medicineCohesin protein Smc3 influences kinocilial structure and function.
Biology openScreened prevalence of trichotillomania and its association with self-esteem among Saudi medical students: a cross-sectional study.
Frontiers in psychiatryIdiopathic isolated adrenocorticotropic hormone deficiency combined with testicular germ cell tumor: Case report.
MedicineArrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.
World journal of clinical pediatricsEpisodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report.
CureusOral 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.
EClinicalMedicineAn unusual presentation of longstanding atrophic Hashimoto's thyroiditis: challenges in a resource-limited setting.
Endocrinology, diabetes & metabolism case reportsAssociations 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 researchComplete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.
Radiology case reportsClinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
Virchows Archiv : an international journal of pathologyStrangulated hair syndrome of the clitoral hood: recurrent and necrotic presentation.
BMJ case reportsUnusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.
Dermatology reportsEPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.
Journal of molecular neuroscience : MNNetherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Acta dermatovenerologica Croatica : ADCA Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.
Molecular syndromologyMolecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.
Frontiers in endocrinologyAssociation of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.
Biomedical reportsAudiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.
International journal of molecular sciencesWispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome.
JAAD case reportsBone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.
Case reports in geneticsGriscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family.
CureusA de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.
Scientific reportsNeuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyFeasibility 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 researchSystemic organophosphate poisoning in child following anti-lice lotion application.
Journal of analytical toxicologyNetherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab.
The Journal of dermatological treatmentExploring the frequency and autoimmune associations of lichen planopilaris.
Italian journal of dermatology and venereologyA Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Case reports in endocrinologyDesign and Protocol of the Biobank for Metabolic Syndrome Consequences (BMSC): A Prospective Cohort Study in Northwest China.
Clinical epidemiologyLow-dose oral minoxidil for the management of vismodegib-induced alopecia.
JAAD case reportsGastric teratoma in a 7-month-old infant: a case report and review of the literature.
Journal of medical case reportsA Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.
Molecular genetics & genomic medicineThe Role of the Glass Ceiling Syndrome in Female Healthcare Workers and Its Association With Telogen Effluvium.
Journal of cosmetic dermatologyHuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype.
Frontiers in immunologyClinical 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 immunologyChemical pollutant mixtures associated with metabolic health: Results from the European Health Examination Survey in Luxembourg.
The Science of the total environmentThe HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
American journal of medical genetics. Part ADevelopmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.
Translational psychiatryLOXHD1b knockout alters swimming behavior in zebrafish.
Cell and tissue researchNovel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.
Case reports in dermatologyEctodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
European journal of pediatricsAn 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 medicineVan 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 EndocrinologyIncreased Weight Loss With the Combination of Levoketoconazole and Semaglutide in a Patient With Mild Hypercortisolism.
AACE endocrinology and diabetesTreatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.
BMC pediatricsBi-directional association between female pattern hair loss and polycystic ovary syndrome: A systematic review and meta-analysis.
JAAD internationalNeonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.
Clinical and experimental pediatricsPatients' knowledge, attitude, and practice regarding alopecia: a cross-sectional study in Hebei, China.
BMC public healthImmunohistochemical 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 dermatologyA machine learning approach for non-invasive PCOS diagnosis from ultrasound and clinical features.
Scientific reportsUse of Glucagon-Like Peptide-1 (GLP-1) Agonists in Modulating Preexisting Dermatologic Disease: A Systematic Review.
CureusUnraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer-Vinson Syndrome.
Clinical case reportsAdeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.
The Journal of physiologyTreatment of Short Anagen Syndrome With Low-Dose Oral Minoxidil.
Pediatric dermatologyXerostomia as a Rare Adverse Effect of Low-Dose Oral Minoxidil: A Case Report With Recurrence After Rechallenge.
Clinical case reportsEmerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.
Developmental dynamics : an official publication of the American Association of AnatomistsAAV-mediated exon skipping therapy for Usher syndrome, type 2A.
Molecular therapy : the journal of the American Society of Gene TherapyA narrative review of Catamenial dermatology: A glimpse into the menstrual symphony.
Indian journal of dermatology, venereology and leprologyTetrahydroxy stilbene glucoside promotes hair regeneration by inducing Th22 cell differentiation.
Journal of ethnopharmacologyThe predawn dilemma in adeno-associated virus-based gene therapies for hereditary deafness.
American journal of stem cellsSingle-cell RNA sequencing reveals the transcriptomic landscape of and potential targets for large and giant congenital melanocytic naevi.
The British journal of dermatologyDelayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.
Frontiers in molecular neuroscienceMaternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.
American journal of medical genetics. Part AHeterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.
Journal of medical geneticsIsolated Hemihyperplasia in Adolescence: A Case Report.
CureusAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Trusting your gut: a hairy situation-gastric trichobezoar case report.
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
- Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
- Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
- Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
- Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
- Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
- Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.
- Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.
- Case series of pediatric gastric trichobezoars: diagnostic challenges, management outcomes, and the imperative for psychiatric follow-up.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2324(Orphanet)
- OMIM OMIM:259690(OMIM)
- MONDO:0009814(MONDO)
- GARD:354(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
