Raras
Buscar doenças, sintomas, genes...
Síndrome de contraturas-pescoço alado-micrognatia-hipoplasia mamilar
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Introdução

O que você precisa saber de cara

📋

Síndrome rara caracterizada por contraturas articulares, pescoço alado, micrognatia (mandíbula pequena) e hipoplasia mamilar (mamilos pouco desenvolvidos).

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: 15%
CID-10: Q87.8
🇧🇷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
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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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202126 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
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 contraturas-pescoço alado-micrognatia-hipoplasia mamilar

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.

Case reports in oncology2026

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. Women with PJS have a significantly increased risk of breast cancer, with surveillance recommended from an early age. A 36-year-old premenopausal woman with PJS was found to have a suspicious lesion in the right breast during routine ultrasound. Subsequent MRI demonstrated an enhancing lesion extending close to the nipple, and biopsy revealed ductal carcinoma in situ. Mammography showed widespread microcalcifications. She underwent right total mastectomy with sentinel lymph node biopsy, followed by immediate reconstruction with tissue expander and later implant exchange with fat grafting. No adjuvant radiotherapy or systemic therapy was administered. She has remained disease-free for 2.5 years postoperatively. This case demonstrates that structured breast surveillance in PJS can facilitate early detection of breast cancer. It underscores the clinical value of regular surveillance in hereditary cancer syndromes and supports the inclusion of breast screening as part of the comprehensive management of PJS.

#2

Enhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.

Plastic and reconstructive surgery. Global open2026 Jan

Immediate breast reconstruction has advanced significantly, yet optimal implant placement remains debated. Prepectoral implant-based breast reconstruction (IBR) offers aesthetic benefits but risks implant exposure and ptosis. Although acellular dermal matrices mitigate these risks, they pose complications such as infection, red breast syndrome, and high costs. Here, we aim to describe and evaluate our technique using the serratus anterior fascia as an autologous alternative for lower pole and lateral support in prepectoral IBR. All patients undergoing prophylactic or curative nipple-sparing mastectomy with immediate prepectoral direct-to-implant reconstruction between October 2023 and December 2024 received the hybrid plane technique and were included. In total, 10 patients received this technique (19 breasts). The mean age was 40.9 years, and the mean body mass index was 22.6 kg/m². All patients had pathogenic mutations, most commonly BRCA1. Three (30%) patients experienced complications, but no reconstruction failures occurred. Mean follow-up was 12.8 months. The absence of implant exposure despite postoperative complications, including wound dehiscence, highlights the safety and protection from the serratus anterior fascia. Similar to its use in subpectoral reconstruction, the serratus anterior fascia can improve prepectoral IBR, offering a safe and cost-free solution for total skin- and nipple-sparing mastectomies.

#3

Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.

International journal of dermatology2026 Mar
#4

Association of coarctation of aorta with Turner syndrome: a case report.

Frontiers in pediatrics2025

Monosomy 45,X is commonly associated with congenital heart defects, particularly coarctation of the aorta (CoA). In this case, the patient developed respiratory distress due to hemodynamic instability from a large bidirectional patent ductus arteriosus (PDA) shunt and systemic hypoperfusion secondary to CoA, which complicated diagnosis and management. We report a 34-week premature female neonate weighing 1.94 kg, delivered via lower segment cesarean section (LSCS) due to oligohydramnios and intrauterine growth restriction. She exhibited characteristic features of Turner syndrome, including a webbed neck, low-set ears, widely spaced nipples, and lymphedema of the hands and feet. Karyotyping confirmed a 45,X monosomy. Echocardiography revealed a bicuspid aortic valve, juxtaductal coarctation of the aorta, a moderate-sized PDA with a bidirectional shunt, and suspected pulmonary hypertension. A contrast-enhanced CT aortogram confirmed the coarctation. The patient was managed with mechanical ventilation, continuous positive airway pressure (CPAP), surfactant therapy, and phototherapy. Rescue transcatheter balloon angioplasty was performed for the coarctation, followed by PDA ligation and surgical coarctation repair at a tertiary center, resulting in marked clinical improvement.

#5

Methodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.

BMC pediatrics2025 May 19

This scoping review aimed to identify methodological procedures for acquiring and analyzing ultrasound images of the tongue during sucking in full-term infants. The Participants, Concept, and Context strategy was used to define the inclusion criteria: population (full-term infants); concept (ultrasound assessment); and context (assessment of tongue movements during sucking). It included observational, experimental, descriptive, and analytical studies, and excluded those unavailable in full, with premature infants, babies with craniofacial changes and syndromes, studies on animals, in vitro, letters to the editor, errata, and using ultrasound for other purposes. There were no language or time restrictions. Two blinded professionals independently selected 20 articles that met the inclusion criteria from different databases. The most evaluated parameters were related to the morphometric and kinematic aspects of the tongue, considering the physical behavior of the nipple and bottle nipple; sucking, swallowing, and breathing; distance from the tip of the nipple to the hard-soft palate junction; and milk flow. An endocavity transducer was positioned in the submental region at 5 MHz to 8 MHz.  CONCLUSIONS: The studies present the acquisition and static analysis of ultrasound images of the tongue, hard and soft palate, nipple, and bottle nipple, and of kinematic measurements of the tongue, nipple, bottle nipple, and hyoid bone. They evaluated quantitative and qualitative parameters. Frequency adjustment depended on the child's age (the B mode was the most used), with babies reclined on the mother's lap to feed from the mother's breast and/or bottle.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.

Case reports in oncology
2026

Enhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.

Plastic and reconstructive surgery. Global open
2025

Osteopathic manipulative treatment for management of feeding dysfunction in breastfed newborns.

Journal of osteopathic medicine
2026

Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.

International journal of dermatology
2025

Exploring Silicone-Induced Lupus Through a Case Report.

Mediterranean journal of rheumatology
2025

Invasive breast carcinoma in a patient with PHTS: a case report.

Diagnostic pathology
2025

Poland's Scoliosis: A Case Report and Literature Review.

Indian journal of orthopaedics
2025

Management of nipple-areolar necrosis in a patient with Klippel-Trenaunay Syndrome.

Journal of surgical case reports
2025

Possible role of anastrozole-induced hormonal alterations in pathogenesis of mammary apocrine carcinoma and follicular lymphoma: a case report and review of the literature.

Journal of medical case reports
2025

Association of coarctation of aorta with Turner syndrome: a case report.

Frontiers in pediatrics
2025

Breast Reconstruction in a Female Patient With Poland Syndrome.

Plastic and reconstructive surgery. Global open
2025

Bilateral Red Breast Syndrome in Prepectoral Implant-based Immediate Breast Reconstruction Using Bovine Pericardium Acellular Collagen Matrix.

Plastic and reconstructive surgery. Global open
2025

Clinical and genetic analysis of ulnar-mammary syndrome caused by a novel TBX3 mutation in a Chinese boy.

Intractable &amp; rare diseases research
2025

Methodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.

BMC pediatrics
2025

Addressing Sexual Health in Breast Cancer Survivors: Evidence-Based Practices and Clinical Considerations.

Current treatment options in oncology
2025

Maternal mastitis and streptococcal toxic shock syndrome risk from breastfeeding children with scarlet fever: case report and literature review.

The Lancet. Infectious diseases
2025

Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery.

The Keio journal of medicine
2025

Möbius Syndrome With Possible Poland Syndrome Overlap: A Case Report.

Cureus
2025

Approach to the Pediatric Poland Syndrome Patient: A 20-Year Academic Experience and Update of the Literature.

Annals of plastic surgery
2025

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.

Frontiers in genetics
2025

Hair tourniquet syndrome leading to nipple autoamputation in an adult female: a case report.

Frontiers in surgery
2025

Pacifiers: Common Questions and Answers.

American family physician
2025

Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.

Surgical case reports
2025

Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Clinical genetics
2025

CONCURRENT OCCURRENCE OF NEUROFIBROMATOSIS TYPE 1 AND TURNER SYNDROME: A PEDIATRIC CASE REPORT WITH COMPREHENSIVE LITERATURE REVIEW.

Acta endocrinologica (Bucharest, Romania : 2005)
2025

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

Molecular neurobiology
2025

Tuberous Breast and Poland Syndrome: An Underestimated Association?

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2024

Surgical Algorithm of Poland Syndrome Based on Thorax, Breast, and Nipple-areola Complex Classification.

Plastic and reconstructive surgery. Global open
2024

Common Tongue Conditions in Primary Care.

American family physician
2025

A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.

Gene
2024

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

Journal of cellular physiology
2024

Her2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study.

International journal of surgery case reports
2025

Congenital Nasal Pyriform Aperture Stenosis and the Significance of McGovern Nipple.

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates &amp; Practitioners
2024

A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1.

Structure (London, England : 1993)
2024

Experience in the use of circular incision bi-pedicled vertical flap based mastectomy for grade III gynecomastia: A case series.

International journal of surgery case reports
2024

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

International journal of molecular sciences
2024

Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction.

International journal of biological macromolecules
2024

Using targeted fetal rat testis genomic and endocrine alterations to predict the effects of a phthalate mixture on the male reproductive tract.

Current research in toxicology
2024

Choriocarcinoma Syndrome: A Rare Complication's Impact on Metastatic Germ Cell Tumor Outcomes.

Cureus
2024

Jaffe-Campanacci syndrome resulted in amputation: A case report.

World journal of clinical cases
2024

Plasmapheresis in post-COVID-19 myelitis: A case report.

Qatar medical journal
2024

Surgical Treatment of Chest Deformity in a Patient with Poland Syndrome. Clinical Case Report.

International medical case reports journal
2024

Effects of Aloe Gel on Lactating Women with Nipple Trauma.

Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine
2024

Hashimoto's Thyroiditis in Noonan Syndrome: A Case Report.

Cureus
2024

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Journal of medical genetics
2024

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Molecular genetics &amp; genomic medicine
2024

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

European journal of medical genetics
2024

Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy.

Current oncology (Toronto, Ont.)
2023

Clinical and Radiological Features in Poland Syndrome: Report of 3 Cases and Review of Literature.

Global pediatric health
2023

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Scientific reports
2023

Idiopathic spinal cord herniation with postoperative paraplegia-A case report.

Clinical case reports
2023

Factors influencing final rendering in areola tattoo reconstruction: a statistical analysis.

Acta bio-medica : Atenei Parmensis
2023

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report.

Journal of medical case reports
2023

Bilateral Free Deep Inferior Epigastric Artery Perforator Flaps for Reconstruction following Mastectomy in Poland Syndrome Patients.

Plastic and reconstructive surgery. Global open
2023

A rare case of Burkitt's lymphoma of the breast in a 19-year-old male: Case report.

Clinical case reports
2023

Clinicopathological profile of mastalgia in females: incidence, types, and pathological correlations. a cross-Sectional study.

Annals of medicine and surgery (2012)
2023

Reproductive toxicity following in utero and lactational exposure to a human-relevant phthalate mixture in rats.

Toxicological sciences : an official journal of the Society of Toxicology
2024

Koro-Like Symptoms in an Adolescent Female With Schizophrenia.

Journal of the American Academy of Child and Adolescent Psychiatry
2023

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

Brain &amp; development
2023

Preoperative computed tomography-guided transscapular sens-cure needle localization for pulmonary nodule located behind the scapula.

Journal of cardiothoracic surgery
2023

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.

American journal of medical genetics. Part A
2023

Unilateral breast enlargement in males during adolescence (10-19 years): Review of current literature and personal experience.

Acta bio-medica : Atenei Parmensis
2023

Pressure Injury Prevention in Patients in Prone Position With Acute Respiratory Distress Syndrome and COVID-19.

Critical care nurse
2023

Nevus comedonicus: A case report with the histological findings and brief review of the literature.

International journal of surgery case reports
2023

Immediate prepectoral breast reconstruction using an ADM with smooth round implants: A prospective observational cohort study.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2023

Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome.

Frontiers in pediatrics
2023

Incidental finding of Poland syndrome in a case of phimosis: a rare case report from Nepal.

Annals of medicine and surgery (2012)
2022

Left-Sided Poland Syndrome With No Hand Anomalies: A Case Report.

Cureus
2023

KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.

Ophthalmic genetics
2023

Breast Lift Algorithm for the Treatment of Breast Implant Illness Requiring Implant Removal.

Aesthetic plastic surgery
2022

Rusty pipe syndrome: a case report and review of the literature.

BMC pregnancy and childbirth
2022

[A case of idiopathic spinal cord herniation with incomplete Brown-Séquard syndrome].

Rinsho shinkeigaku = Clinical neurology
2022

Detection of PRRSV-2 alone and co-localized with CD163 positive macrophages in porcine placental areolae.

Veterinary immunology and immunopathology
2022

SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.

Placenta
2022

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Human genome variation
2022

A Rare Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Transverse Myelitis in a 40-Year-Old Patient With COVID-19.

Cureus
2023

Effects of glepaglutide, a long-acting glucagon-like peptide-2 analog, on intestinal morphology and perfusion in patients with short bowel syndrome: Findings from a randomized phase 2 trial.

JPEN. Journal of parenteral and enteral nutrition
2023

Point Shear Wave Elastography by ElastPQ for Fibrosis Screening in Patients with NAFLD: A Prospective, Multicenter Comparison to Vibration-Controlled Elastography.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2022

Blood-Stained Colostrum: A Rare Phenomenon at an Early Lactation Stage.

Children (Basel, Switzerland)
2022

Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review.

Taiwanese journal of obstetrics &amp; gynecology
2022

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

Orphanet journal of rare diseases
2022

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

American journal of medical genetics. Part A
2021

Rusty pipe syndrome. Safety of breastfeeding.

Ginekologia polska
2022

Noonan Syndrome Presenting with Stunted Growth: A Case Report.

Mymensingh medical journal : MMJ
2022

Diagnostic value of chest computed tomography images in adult Poland syndrome: a report of two cases.

The Journal of international medical research
2022

Two different presentations of de novo variants of CSNK2B: two case reports.

Journal of medical case reports
2021

Serial transverse enteroplasty and nipple valve construction, two life saving techniques for patients with short bowel syndrome, a report of 5 cases.

BMC surgery
2023

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.

Journal of clinical research in pediatric endocrinology
2021

Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.

Frontiers in endocrinology
2022

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

European journal of medical genetics
2021

Bloody nipple discharge in Carney complex: A case report.

The breast journal
2021

Poland's syndrome concomitant with congenital proximal and distal radioulnar synostosis: A rare case report.

Joint diseases and related surgery
2021

Surgical Treatment of Intercostal Brachial Nerve Pain after Mastectomy and Axillary Dissection.

Plastic and reconstructive surgery. Global open
2021

The phenotypic characteristics of patients with athelia and tooth agenesis.

Annals of translational medicine
2021

Acute Transverse Myelitis Following COVID-19 Infection: A Rare Case From Saudi Arabia.

Cureus
2022

The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.

American journal of medical genetics. Part A
2022

Familial cleft tongue caused by a unique translation initiation codon variant in TP63.

European journal of human genetics : EJHG
2021

Turner syndrome mosaicism: Challenges in identification and management in primary care.

Journal of the American Association of Nurse Practitioners
2021

Feeding considerations for infants with craniofacial malformations.

Seminars in fetal &amp; neonatal medicine
2021

A Case of Early Diagnosis of Turner Syndrome in a Neonate.

Cureus
2021

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.

Molecular cytogenetics
2022

Surgery of congenital breast asymmetry-which objective parameter influences the subjective satisfaction with long-term results.

Archives of gynecology and obstetrics
2021

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Clinical dysmorphology
2021

Conservative Management of Traumatic Brown-Séquard Syndrome: A Case Report.

The American journal of case reports
2021

Combined management of open abdomen with enteroatmospheric fistula by negative pressure instill wound therapy and dermal matrix wound dressing.

Annali italiani di chirurgia
2020

Noonan syndrome with somnambulism: A rare case report.

Industrial psychiatry journal
2021

Hirschsprung disease with Edward syndrome: A rare association: A case report.

International journal of surgery case reports
2021

Evaluation of Effect of Orthodontic Pacifiers in Prevention of Sudden Infant Death Syndrome: A Finite Element Method and Questionnaire Based Study.

The Journal of clinical pediatric dentistry
2021

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

Molecular genetics &amp; genomic medicine
2021

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.

European journal of medical genetics
2021

Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay-Marks syndrome).

Congenital anomalies
2021

Evaluation of the Safety of Taking Lamotrigine During Lactation Period.

Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine
2021

Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.

Neurosciences (Riyadh, Saudi Arabia)
2021

Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child.

Clinical and experimental dermatology
2021

Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.

BMJ case reports
2020

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.

Frontiers in genetics
2020

Chinese herbal compound combined with western medicine therapy in the treatment of plasma cell mastitis: A protocol for systematic review and meta-analysis.

Medicine
2021

Ankyloglossia Superior Syndrome With Complex Craniofacial Anomalies: Case Report and Literature Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Molecular medicine reports
2020

RED BREAST SYNDROME (RBS) ASSOCIATED TO THE USE OF POLYGLYCOLIC MESH IN BREAST RECONSTRUCTION: A CASE REPORT.

Acta chirurgiae plasticae
2020

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

American journal of medical genetics. Part A
2020

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.

Molecular syndromology
2020

McGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
2020

Epithelial Mesenchymal Transition and Progression of Breast Cancer Promoted by Diabetes Mellitus in Mice Are Associated with Increased Expression of Glycolytic and Proteolytic Enzymes.

Hormones &amp; cancer
2020

AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.

Developmental cell
2020

Prevalence of Polycystic Ovarian Syndrome among Medical Students of a Tertiary Care Hospital.

JNMA; journal of the Nepal Medical Association
2020

Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature.

Journal of medical case reports
2021

Bloody Nipple Discharge Post Delivery: A Case of "Rusty Pipe Syndrome".

Korean journal of family medicine
2020

How to manage BRCA mutation carriers?

Hormone molecular biology and clinical investigation
2020

Combining conventional and participatory approaches to identify and prioritise management and health-related constraints to smallholder pig production in San Simon, Pampanga, Philippines.

Preventive veterinary medicine
2020

Nitrous oxide recreational abuse presenting with myeloneuropathy and mimicking Guillain-Barre syndrome.

Intractable &amp; rare diseases research
2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

American journal of medical genetics. Part A
2020

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.

Clinical genetics
2020

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication.

Neuropediatrics
2020

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Internipple Distance and Internipple Index in Prepubertal Turkish Girls.

Journal of clinical research in pediatric endocrinology
2020

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

The British journal of dermatology
2019

Tactile Sensitivity of Women with Turner Syndrome.

International journal of environmental research and public health
2019

Surgical Outcomes of Implant-based Breast Reconstruction Using TiLoop Bra Mesh Combined With Pectoralis Major Disconnection.

Annals of plastic surgery
2020

Leiomyoma of the Nipple: A common neoplasm in an uncommon location.

The breast journal
2019

Mandibulofacial dysostosis with microcephaly: a syndrome to remember.

BMJ case reports
2019

Malignant acanthosis nigricans as a paraneoplastic manifestation of metastatic breast cancer.

International journal of women's dermatology
2019

Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Scientific reports
2019

Breast symptoms in adolescents and young adults presenting to a specialist breast clinic.

Australian journal of general practice
2019

Poland Sequence: Retrospective Analysis of 66 Cases.

Annals of plastic surgery
2019

Barber Say Syndrome (A New Case Report).

Indian dermatology online journal
2019

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.

BMC pediatrics
2019

Concerns and Expectations of Risk-Reducing Surgery in Women with Hereditary Breast and Ovarian Cancer Syndrome.

Journal of clinical medicine
2018

Gynecomastia - Conservative and Surgical Management.

Breast care (Basel, Switzerland)
2019

Galactorrhea, mastodynia and gynecomastia as the first manifestation of lung adenocarcinoma. A case report.

Respiratory medicine case reports
2019

Lethal silicone embolization syndrome complicating penile, scrotal and breast self-augmentation.

Forensic science, medicine, and pathology
2018

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Endocrine connections
2018

Management of the Lateral Breast.

Plastic and reconstructive surgery. Global open
2019

Developmental disorders and malformations of the breast.

Seminars in diagnostic pathology
2019

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Journal of medical genetics
2018

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.

Cytogenetic and genome research
2018

Safety Profile of Levonorgestrel: A Disproportionality Analysis of Food and Drug Administration Adverse Event Reporting System (Faers) Database.

Journal of reproduction &amp; infertility
2018

Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report.

Cornea
2018

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features.

Journal of clinical research in pediatric endocrinology
2018

Comparison of objective and subjective evaluation of breast symmetrization results in patients with Poland syndrome.

Polski przeglad chirurgiczny
2018

Acrocyanosis - A Symptom with Many Facettes.

Open access Macedonian journal of medical sciences
2017

A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.

Turk pediatri arsivi
2018

Granulomatous diseases of the breast and axilla: radiological findings with pathological correlation.

Insights into imaging
2018

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

Journal of medical case reports
2018

Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2017

Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection?

Breast care (Basel, Switzerland)
2017

Pigmented Macule - A Skin Manifestation of Invasive Breast Cancer.

The New England journal of medicine
2017

Swallow-Breath Interaction and Phase of Respiration with Swallow during Non-Nutritive Suck in Infants Affected by Neonatal Abstinence Syndrome.

Frontiers in pediatrics
2017

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

International journal of pediatric endocrinology
2017

Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum.

The Annals of thoracic surgery
2017

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.

Journal of biomedical science
2017

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.

The American journal of case reports
2018

Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy.

Clinical dysmorphology
2019

Sex Differences in the Presentation of Body Dysmorphic Disorder in a Community Sample of Adolescents.

Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53
2017

When is the use of pacifiers justifiable in the baby-friendly hospital initiative context? A clinician's guide.

BMC pregnancy and childbirth
2017

Nipple-Sparing Mastectomy and Its Application on BRCA Gene Mutation Carrier.

Clinical breast cancer
2016

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

Developmental period medicine
2017

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

The Turkish journal of pediatrics
2016

Objective assessment of a preterm infant's nutritive sucking from initiation of feeding through hospitalization and discharge.

Neonatal intensive care : the journal of perinatology-neonatology
2017

Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature.

Acta dermato-venereologica
2016

Effect of restricted pacifier use in breastfeeding term infants for increasing duration of breastfeeding.

The Cochrane database of systematic reviews
2016

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.

Journal of medical case reports
2016

Phase II study of metformin for reduction of obesity-associated breast cancer risk: a randomized controlled trial protocol.

BMC cancer
2016

Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome.

Plastic and reconstructive surgery
2016

Bi-pedicle nipple-sparing mastectomy (modified Letterman technique) and TIGR mesh-assisted immediate implant reconstruction, in a patient with Cowden syndrome.

Gland surgery
2016

Invasive lobular carcinoma: a rare presentation in the male breast.

BMJ case reports
2016

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

American journal of medical genetics. Part A
2017

Effects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome.

Cardiology in the young
2016

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2015

[Evaluation of risk factors for Mastitis-Metritis-Agalactia in pig farms in Switzerland].

Schweizer Archiv fur Tierheilkunde
2016

Supernumerary nipples--a new finding in Williams syndrome.

Clinical dysmorphology
2016

A Case Control Study of Diabetes During Pregnancy and Low Milk Supply.

Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine
2015

CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33.

Genetic counseling (Geneva, Switzerland)
2015

Conservative mastectomies and immediate reconstruction with the use of ADMs.

Gland surgery
2016

Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.

Journal of pediatric and adolescent gynecology
2015

A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting.

Case reports in ophthalmology
2016

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

European journal of pediatrics
2016

Nonintubated Transareolar Endoscopic Thoracic Sympathectomy with a Flexible Endoscope: Experience of 58 Cases.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2015

Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance.

The British journal of surgery
2015

Cocaine use and the breastfeeding mother.

The practising midwife

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Early Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.
    Case reports in oncology· 2026· PMID 41583049mais citado
  2. Enhancing Prepectoral Direct-to-Implant Reconstruction Using the Serratus Anterior Fascia: The Hybrid Plane.
    Plastic and reconstructive surgery. Global open· 2026· PMID 41567351mais citado
  3. Scalp-Ear-Nipple Syndrome: A Rare Sporadic Presentation.
    International journal of dermatology· 2026· PMID 41160101mais citado
  4. Association of coarctation of aorta with Turner syndrome: a case report.
    Frontiers in pediatrics· 2025· PMID 40909432mais citado
  5. Methodological procedures for ultrasonographic assessment of the tongue during sucking in full-term infants: A scoping review.
    BMC pediatrics· 2025· PMID 40389930mais citado
  6. A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.
    Gene· 2025· PMID 39424163recente
  7. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
    J Med Genet· 2024· PMID 38296633recente
  8. A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
    Mol Genet Genomic Med· 2024· PMID 38284453recente
  9. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
    Eur J Med Genet· 2024· PMID 38281558recente
  10. A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
    Brain Dev· 2023· PMID 37451886recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:314002(Orphanet)
  2. MONDO:0017788(MONDO)
  3. GARD:21364(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q29982081(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

Compêndio · Raras BR

Síndrome de contraturas-pescoço alado-micrognatia-hipoplasia mamilar

ORPHA:314002 · MONDO:0017788
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
No data available
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4751075
Wikidata
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