Living with Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
A rare genetic syndrome starting in infancy with developmental delay, severe intellectual disability, slow growth, crossed eyes, and large blue-gray skin patches.
Understanding Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
It includes global developmental delay, severe intellectual disability, growth deficiency, a small head, crossed eyes, bluish-gray whites of the eyes, and extensive Mongolian spots (blue-gray skin patches). Some people have epilepsy. Brain imaging may show cerebral atrophy and other differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Profound intellectual disability
- Seizures
- Small head that gets smaller over time
- Chronic kidney disease
- Poor speech
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PUS3 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); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
It is caused by changes in the PUS3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: intellectual disability, autosomal recessive 55; intellectual disability, autosomal recessive type 55; mrt55; nedmigs; neurodevelopmental disorder with microcephaly and gray sclerae; neurodevelopmental disorder with microcephaly and grey sclerae
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome.
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