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Absent dorsal skin creases over affected joints

MedGen UID:
350017
Concept ID:
C1861400
Finding
HPO: HP:0001049

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent dorsal skin creases over affected joints

Conditions with this feature

Distal symphalangism
MedGen UID:
350018
Concept ID:
C1861401
Congenital Abnormality
Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by Poush, 1991).
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MedGen UID:
1648332
Concept ID:
C4748496
Disease or Syndrome
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

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