Living with Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
A rare genetic skin pigment condition present from birth with light and dark patches, sometimes with slow growth and intellectual disability.
Understanding Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
It causes flat patches of lighter and darker skin from birth. In some people it also involves slow growth and intellectual disability. It has not been described in the medical literature since 1978. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Flat light skin patches
- Flat dark skin patches
- Moles (melanocytic nevus)
- Intellectual disability
- Short height
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
Changes in genes (also called variants) cause this condition. GARD doesn't list a specific gene or inheritance pattern.
Also known as: hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome; hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome; westerhof beemer cormane syndrome; westerhof-beemer-cormane syndrome
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 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome.
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