Living with Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
A rare inherited syndrome with underdeveloped forearm bones, three-boned thumbs, and in males, hypospadias.
Understanding Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Both thumbs have three bones and can't oppose, which means they can't move across the palm to touch the fingers. The radius bone in the forearm is underdeveloped. Affected males also have hypospadias, where the urinary opening is not at the tip of the penis. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thumbs with three bones that can't oppose
- Underdeveloped radius bone
- Hypospadias in males
- Shorter-than-typical limbs
- Prominent lower jaw
- Different fingerprint patterns
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 and urinary and male reproductive system 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); Urinary and male reproductive system specialists (urologists)
- 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 gene changes cause this condition. It is autosomal dominant, meaning one changed copy of a gene from a parent is enough. It doesn't name a gene yet.
Also known as: radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome; radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema; radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema; schmitt gillenwater kelly syndrome; schmitt-gillenwater-kelly 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 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome.
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