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Craniofacial conodysplasia

MedGen UID:
929531
Concept ID:
C4303862
Disease or Syndrome
Synonyms: craniofacial conodysplasia; Craniofacial conodysplasia syndrome
SNOMED CT: Craniofacial conodysplasia syndrome (720754008)
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.
 
Monarch Initiative: MONDO:0019406
Orphanet: ORPHA85168

Definition

This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniofacial conodysplasia

Recent clinical studies

Diagnosis

Beals RK, Piatt JH, Zonana J
J Pediatr Orthop 1995 Sep-Oct;15(5):633-6. doi: 10.1097/01241398-199509000-00016. PMID: 7593576

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