Chondrodysplasia with joint dislocations, gPAPP type

Orpha code: 280586OMIM code: 614078

Definition

A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
gPAPP deficiency
Niedobór gPAPP
ORPHA code
280586
OMIM code
614078
ICD10 code
M85.0
ICD11 code
-

No additional description.

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