Living with Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
An extremely rare syndrome with a small jaw, a short webbed neck, small nipples, and tight knees and elbows that ease over time.
Understanding Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
It includes a small jaw (micrognathia), a short, webbed neck, underdeveloped nipples, and tight joints (contractures) in the knees and elbows that improve over time. People may also have sloping shoulders, mild to moderate hearing loss, mild speech problems, and certain facial features, like wide-set eyes. It is noticed in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Small jaw (micrognathia)
- Short, webbed neck
- Underdeveloped nipples
- Tight knees and elbows that improve over time
- Hearing loss
- Mild speech problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: contractures-webbed neck-micrognathia-hypoplastic nipples syndrome; contractures, webbed neck, micrognathia, hypoplastic nipples syndrome; dinno syndrome; joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome.
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