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.
MONDO:0019707
primary osteolysis
is_a
Petit-Fryns syndrome
exact
distal osteolysis-short stature-intellectual disability syndrome
exact
osteolysis syndrome recessive
related
osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance
related
osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance
related
osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance
related