Living with Brachymorphism-onychodysplasia-dysphalangism syndrome
A rare genetic condition with underdeveloped pinky nails, short stature, and distinct facial features.
Understanding Brachymorphism-onychodysplasia-dysphalangism syndrome
Intellect ranges from normal to mildly impaired. It is seen in newborns. Signs are similar to, though milder than, Coffin-Siris syndrome, and how the two are related is not known.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped or missing fingernails and toenails
- Short stature
- Short fingers or toes
- Small head (microcephaly)
- High forehead and prominent nose
- Crossed eyes (strabismus)
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
The cause is not known. It is thought to be autosomal dominant, but in many families it appears for the first time because of a new genetic change.
Also known as: bod (brachymorphism, onychodysplasia, dysphalangism) syndrome; bod syndrome; brachymorphism with onychodysplasia and dysphalangism syndrome; senior 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 Brachymorphism-onychodysplasia-dysphalangism syndrome.
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