A syndrome with true anophthalmia, hand-foot defects and mental retardation.
A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000853:Anophthalmos / Q000150:complications*; D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D013577:Syndrome