Cryptophthalmos with an orbital cyst and profound mental and motor retardation.
The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. Syndactyly and renal anomalies were not observed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum; D000853:Anophthalmos / Q000150:complications / Q000175:diagnosis*; D002675:Child, Preschool; D003560:Cysts / Q000150:complications* / Q000473:pathology / Q000601:surgery; D005128:Eye Diseases / Q000150:complications* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009043:Motor Activity; D009915:Orbit / Q000002:abnormalities; D013577:Syndrome