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Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
Synonym: Thoraco-limb dysplasia
SNOMED CT: Thoracomelic dysplasia (783003009)
 
Monarch Initiative: MONDO:0010116
OMIM®: 273740
Orphanet: ORPHA1803

Definition

An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. [from SNOMEDCT_US]

Clinical features

From HPO
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThoracomelic dysplasia

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