A familial syndrome of cranial, facial, oral and limb anomalies.
A family is described in which two male infants have microcephaly, abnormal ears, anti-mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate; D005121:Extremities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome