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Scalp defects-postaxial polydactyly syndrome

MedGen UID:
401140
•Concept ID:
C1867021
•
Disease or Syndrome
Synonyms: Congenital scalp defects associated with postaxial polydactyly; SCALP DEFECTS AND POSTAXIAL POLYDACTYLY; Scalp defects postaxial polydactyly
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008403
OMIM®: 181250
Orphanet: ORPHA1003

Definition

A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. [from ORDO]

Clinical features

From HPO
Postaxial polydactyly type A
MedGen UID:
854350
•Concept ID:
C3887487
•
Disease or Syndrome
Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.
See: Feature record | Search on this feature
Aplasia cutis congenita of scalp
MedGen UID:
343411
•Concept ID:
C1855698
•
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScalp defects-postaxial polydactyly syndrome
Follow this link to review classifications for Scalp defects-postaxial polydactyly syndrome in Orphanet.

Supplemental Content

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      Related records in OMIM
    • PubMed
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      Related literature resources in PubMed

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