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Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

MedGen UID:
371988
•Concept ID:
C1835172
•
Disease or Syndrome
Synonyms: Macules hereditary congenital hypopigmented and hyperpigmented; Westerhof Beemer Cormane syndrome
SNOMED CT: Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (733469003); Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome (733469003); Westerhof Beemer Cormane syndrome (733469003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016574
Orphanet: ORPHA2435

Definition

A neurocutaneous syndrome with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Follow this link to review classifications for Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome in Orphanet.

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