Overview
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body from birth. It is sometimes referred to by its Orphanet code ORPHA:488627. The condition is defined by four main features: significantly shorter height and slower growth than expected for age, crossed or misaligned eyes (called strabismus), large areas of bluish-gray skin discoloration caused by pigment cells deep in the skin (called extensive dermal melanocytosis, similar to but more widespread than common 'Mongolian spots'), and intellectual disability that affects learning, communication, and daily functioning. This syndrome appears to be caused by changes in a person's genetic material, though research is still ongoing to fully understand the underlying cause. Because it is so rare, most of what is known comes from a very small number of reported cases. There is currently no cure for this condition. Treatment focuses on managing each symptom individually — for example, glasses or surgery for eye misalignment, educational support and therapy for intellectual disability, and regular monitoring of growth. A team of different specialists is usually needed to provide the best care.
Key symptoms:
Significantly shorter height and slower growth than other children the same ageCrossed or misaligned eyes (strabismus)Large areas of bluish-gray skin discoloration, especially on the back and buttocks, caused by pigment cells deep in the skinIntellectual disability affecting learning, memory, and communicationDelayed developmental milestones such as sitting, walking, and talkingPossible facial features that look different from other family members
Clinical phenotype terms (40)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to try to find the cause of my child's condition?,Which specialists does my child need to see, and how often?,What early intervention or therapy programs would help my child the most right now?,Is my child's growth problem related to a hormone deficiency that could be treated?,What should we watch for that would mean my child needs urgent medical attention?,Are there any research studies or registries for this condition that we could join?,What support services are available to help our family manage day-to-day care?
Common questions about Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
What is Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome?
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome is a very rare genetic condition that affects multiple parts of the body from birth. It is sometimes referred to by its Orphanet code ORPHA:488627. The condition is defined by four main features: significantly shorter height and slower growth than expected for age, crossed or misaligned eyes (called strabismus), large areas of bluish-gray skin discoloration caused by pigment cells deep in the skin (called extensive dermal melanocytosis, similar to but more widespread than common 'Mongolian spots
How is Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome inherited?
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome typically begin?
Typical onset of Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.