Living with Short stature-brachydactyly-obesity-global developmental delay syndrome
A rare genetic condition with short height, short fingers, delayed development and learning challenges.
Understanding Short stature-brachydactyly-obesity-global developmental delay syndrome
People are short, with short fingers and small fingertip bones. They have developmental delay and intellectual disability. Seizures, weight gain (obesity) and facial differences, such as a small head, flat face and deep-set eyes, may also occur. Signs can begin during pregnancy, at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Obesity
- Low muscle tone as an infant (floppy infant)
- Crossed eyes (strabismus)
- Flat face and thin upper lip
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PRMT7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 lists changes in the PRMT7 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sbidds; short stature, brachydactyly, impaired intellectual development, and seizures; short stature, brachydactyly, intellectual developmental disability, and seizures
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-brachydactyly-obesity-global developmental delay syndrome.
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