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Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

MedGen UID:
1806249
Concept ID:
C5680313
Disease or Syndrome
Synonyms: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies; RHOA (ras homolog family member A) related mosaic ectodermal dysplasia; RHOA-related mosaic ectodermal dysplasia
SNOMED CT: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (1208985003); RHOA (ras homolog family member A) related mosaic ectodermal dysplasia (1208985003); RHOA-related mosaic ectodermal dysplasia (1208985003)
 
Monarch Initiative: MONDO:0035124
Orphanet: ORPHA589608

Definition

A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLinear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

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