A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.
A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.
D000293:Adolescent; D000328:Adult; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics