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Aplasia cutis congenita of midline scalp vertex

MedGen UID:
870404
•Concept ID:
C4024849
•
Finding
HPO: HP:0007536

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia cutis congenita of midline scalp vertex

Conditions with this feature

Aplasia cutis-myopia syndrome
MedGen UID:
331375
•Concept ID:
C1832826
•
Disease or Syndrome
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
See: Condition Record
Aplasia cutis-myopia syndrome

Recent clinical studies

Etiology

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.
Whalen M
Neonatal Netw 2020 Mar 1;39(2):83-91. doi: 10.1891/0730-0832.39.2.83. PMID: 32317338

Diagnosis

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.
Whalen M
Neonatal Netw 2020 Mar 1;39(2):83-91. doi: 10.1891/0730-0832.39.2.83. PMID: 32317338

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