Cure My Disease

Don't miss your cure!

 Log in / Sign up

Autosomal recessive distal osteolysis syndrome

MONDO:0009810

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.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Human disease (14) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 17 Not yet recruiting 6 Not yet finished but already full! 4 Completed 7 Terminated 1
Sort by