Living with Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
A rare genetic condition with severe learning challenges, short height, a small head, spine curves and behavior differences.
Understanding Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
People with this condition have severe intellectual disability with limited or no speech, short stature, and a head that becomes small over time. They may have a curved spine (scoliosis or kyphoscoliosis). Behavior differences can include hyperactivity, repeated movements and aggression. Facial features may include a sloping forehead, deep-set eyes, crossed eyes and large ears. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Delayed speech and language
- Short stature
- Small head (microcephaly)
- Curved spine (scoliosis)
- Hyperactivity, repeated movements or aggression
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.
- 3Consider genetic testing
Changes in TTI2 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
- 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 lists changes in the TTI2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: intellectual developmental disorder, autosomal recessive 39; intellectual disability, autosomal recessive type 39
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 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome.
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