hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Findings
No curated finding names hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0016574), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Melanocytic nevusHPOHP:0000995
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal rib morphology
Where it sits
- A kind of
Other names
1 name
Resolves to: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Also called
- Westerhof-Beemer-Cormane syndrome