/autosomal recessive distal osteolysis syndrome

autosomal recessive distal osteolysis syndrome

Rare Disease

MONDO:0009810

Also Known As

Petit-Fryns syndromedistal osteolysis-short stature-intellectual disability syndromeosteolysis syndrome recessiveosteolysis syndrome, recessiveosteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearanceosteolysis, distal, with short stature, intellectual disability, and characteristic facial appearanceosteolysis, distal, with short stature, mental retardation, and characteristic Facial appearanceosteolysis, distal, with short stature, mental retardation, and characteristic facial appearance

Definition

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.