/radioulnar synostosis-microcephaly-scoliosis syndrome

radioulnar synostosis-microcephaly-scoliosis syndrome

Rare Disease

MONDO:0011320

Also Known As

Giuffre-Tsukahara syndromeGiuffré-Tsukahara syndromeTsukahara syndromeTsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disabilityTsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardationradioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disabilityradioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation

Definition

An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.