Living with Short stature-webbed neck-heart disease syndrome
A very rare genetic condition with short height, a webbed neck, heart defects and learning challenges.
Understanding Short stature-webbed neck-heart disease syndrome
People have short stature, intellectual disability, distinctive facial features and skin changes. GARD says it has been reported in four siblings from an Arab Bedouin family whose parents were related. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short, webbed neck
- Heart defects present from birth
- Intellectual disability
- Skin changes
- Distinctive facial features
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 the gene or how it is inherited.
Also known as: al gazali aziz salem syndrome; al gazali-aziz-salem syndrome; short stature with webbed neck and congenital heart disease 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 Short stature-webbed neck-heart disease syndrome.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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