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Mesomelic dwarfism, Reinhardt-Pfeiffer type

MedGen UID:
395935
Concept ID:
C1860616
Disease or Syndrome
Synonyms: Mesomelic dwarfism of hypoplastic ulna and fibula type; Mesomelic dysplasia Reinhardt-Pfeiffer type; Ulna and fibula, hypoplasia of
SNOMED CT: Mesomelic dysplasia of hypoplastic ulna and fibula type (715472000); Mesomelic dwarfism Reinhardt-Pfeiffer type (715472000); Reinhardt Pfeiffer syndrome (715472000); Reinhardt Pfeiffer mesomelic dysplasia (715472000)
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:0008618
OMIM®: 191400
Orphanet: ORPHA2634

Definition

Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic dwarfism, Reinhardt-Pfeiffer type
Follow this link to review classifications for Mesomelic dwarfism, Reinhardt-Pfeiffer type in Orphanet.

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