Overview
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome (also sometimes referred to by its Orphanet code ORPHA:2435) is a very rare condition that affects the skin, growth, and brain development. The name describes its three main features: unusual skin spots, slower-than-normal growth, and intellectual disability. The skin spots can appear either lighter (hypomelanotic) or darker (hypermelanotic) than the surrounding skin, meaning the skin cells either make too little or too much of the pigment called melanin in certain areas. These patches are usually harmless on their own but are an important clue for diagnosis. Children with this syndrome typically grow more slowly than their peers and may be shorter than expected for their age. Intellectual disability means that learning, reasoning, and daily problem-solving skills develop more slowly and may remain limited throughout life. The degree of intellectual disability can vary from mild to more significant. Some individuals may also have other features affecting the nervous system or other body systems, though the condition is so rare that the full picture is not yet completely understood. There is currently no cure for this syndrome. Care focuses on supporting development through early intervention programs, special education, speech therapy, occupational therapy, and physical therapy. Regular monitoring by a team of specialists helps manage symptoms and improve quality of life. Genetic counseling is recommended for affected families.
Also known as:
Key symptoms:
Light-colored (hypopigmented) skin patchesDark-colored (hyperpigmented) skin patchesSlower growth and shorter height than peersIntellectual disability (difficulty with learning and reasoning)Delayed speech and language developmentDelayed motor milestones such as sitting or walking later than usualPossible behavioral challenges
Clinical phenotype terms (8)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventTriostat: FDA approved
Treatment of myxedema coma/precoma.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableTriostat
Treatment of myxedema coma/precoma.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hypo- and hypermelanotic cutaneous macules-retarded growth-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 Hypo- and hypermelanotic cutaneous macules-retarded growth-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 find the cause of my child's condition?,What therapies (speech, physical, occupational) should we start right away, and how do we access them?,Should my child see an endocrinologist about their growth, and could growth hormone therapy help?,How often should the skin spots be checked, and are there any warning signs we should watch for?,What level of independence might my child achieve as an adult, and what support services are available?,Is there a risk that other family members or future children could be affected?,Are there any research studies or registries for this condition that we could participate in?
Common questions about Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
What is Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome?
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome (also sometimes referred to by its Orphanet code ORPHA:2435) is a very rare condition that affects the skin, growth, and brain development. The name describes its three main features: unusual skin spots, slower-than-normal growth, and intellectual disability. The skin spots can appear either lighter (hypomelanotic) or darker (hypermelanotic) than the surrounding skin, meaning the skin cells either make too little or too much of the pigment called melanin in certain areas. These patches are usually harml
At what age does Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome typically begin?
Typical onset of Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.
What treatment and support options exist for Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome?
1 patient support program are currently tracked on UniteRare for Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.