Cryptophthalmia syndrome (cryptophthalmos syndactyly syndrome; fraser syndrome) 332

General: Autosomal recessive.

Ocular: Microphthalmia; epibulbar dermoid; crypt 515d33f ophthalmos; enophthalmia; eyebrows partially or completely missing; skin from forehead completely covers one or both eyes, but the globes can be palpated beneath the skin; in unilateral cases, the fellow eye may present lid coloboma; buphthalmos; conjunctival sac partially or totally obliterated; absence of trabeculae, Schlemm canal, and ciliary muscles; cornea is differentiated from the sclera; lens anomalies from complete absence to hypoplasia, dislocation, and calcification.

Clinical: Syndactyly (finger, toes ) (about 40%); coloboma of alae nasi and nostrils; urogenital abnormalities, including pseudohermaphroditism and renal hypoplasia; abnormal, bizarre hairline; narrow external auditory meatus and malformation of ossicles; cleft lip and palate may occur; atresia or hypoplasia of larynx in some cases; hoarse voice; dysplastic pinna; meatal stenosis; glottic web and subglottic stenosis.

Ford GR, et al. ENT manifestations of Fraser syndrome. J Laryngol Otol 1992; 106:1-4.

Goldhammer Y, Smith JL. Cryptophthalmos syndrome with basal encephaloceles. Am J Ophthalmol 1975; 80: 146.

Ide CH, Wollschlaeger PB. Multiple congenital abnormalities associated with cryptophthalmia. Arch Ophthalmol 1969; 81:638.

Morax S, et al. Orbito-palpebral reconstruction in two cases of incomplete cryptophthalmos. Adv Ophthalmic Plast Reconstr Surg 1992; 9:81-91.

Pankau R, et al. Fraser (cryptophthalmos syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids. Genet Couns 1994; 5:191-l94.