Living with Oromandibular-limb hypogenesis syndrome
A group of conditions with severe limb differences, mostly in the hands and feet, plus differences of the mouth, tongue, and jaw.
Understanding Oromandibular-limb hypogenesis syndrome
The limb differences are severe, uneven from side to side, and mostly in the hands and feet. Mouth and jaw differences can include a small or missing tongue, a small jaw, tongue fused to the palate, cleft palate, and gum differences. The group includes Charlie M syndrome, Hanhart syndrome, and glossopalatine ankylosis. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Severe limb differences, mostly in the hands and feet
- Small or missing tongue
- Small jaw (micrognathia)
- Cleft palate
- Tongue fused to the roof of the mouth
- Gum differences
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, ear, nose, and throat 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); Ear, nose, and throat specialists (otolaryngologists); 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 list a specific gene or how it is inherited.
Also known as: oroacral 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 Oromandibular-limb hypogenesis syndrome.
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