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Short stature-valvular heart disease-characteristic facies syndrome

MedGen UID:
338866
Concept ID:
C1852073
Disease or Syndrome
Synonym: Disproportionate short stature with ptosis and valvular heart lesions
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:0007461
OMIM®: 126190
Orphanet: ORPHA2868

Definition

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature-valvular heart disease-characteristic facies syndrome
Follow this link to review classifications for Short stature-valvular heart disease-characteristic facies syndrome in Orphanet.

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