Autosomal recessive distal osteolysis syndrome

What is Autosomal recessive distal osteolysis syndrome?

An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.

Other condition names

  • Distal osteolysis-short stature-intellectual disability syndrome
  • Petit-Fryns syndrome

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
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