Living with Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
A rare genetic condition with delayed development, learning challenges, low muscle tone and a short forearm bone.
Understanding Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
People have global developmental delay, which can be mild to severe, and intellectual disability. They have mild low muscle tone, a short ulna (a forearm bone), extra hair on the face and limbs, and mild scoliosis. Facial features include a tall, broad forehead, a joined eyebrow and widely spaced eyes. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Low muscle tone (hypotonia)
- Short, underdeveloped ulna
- Extra hair on face and limbs
- Small lower jaw (micrognathia)
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 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
- 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
GARD says changes in genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
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 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome.
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