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. The disease is MONDO_0009810 (autosomal recessive distal osteolysis syndrome). Also known as: Petit-Fryns syndrome, distal osteolysis-short stature-intellectual disability syndrome.