A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency.
We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D005123:Eye / Q000503:physiopathology; D005124:Eye Abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome