Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized 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.

Also known as: Petit-Fryns syndrome, distal osteolysis-short stature-intellectual disability syndrome, osteolysis syndrome recessive, osteolysis syndrome, recessive, osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance, osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance, osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance, osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance

35 clinical trials for this condition and its sub-types.