Ocular-dental-finger dysplasia syndrome

(oculodentodigital dysplasia syndrome) Oculodentodigital dysplasia syndrome (ODD) is a group of syndromes characterized by cryptophthalmia or microphthalmia, dental enamel hypoplasia, and syndactyly. [Alias] Oculodentoosseous dysplasia; cryptophthalmia; Meyer-Schwickerath-Weyers syndrome; Ullrich-Feichtiger syndrome. [The cause is unknown. Mostly thought to be autosomal recessive. [clinical manifestations] Ocular syndromes: cryptophthalmos or microphthalmos, small corneas (6-7 mm in diameter), corneal opacities, iris malformations, small lid fissures, wide orbital spacing, glaucoma, etc. Abnormalities of the oral and maxillary system: small or giant mouth, small mandible, wide alveolar ridge, hypoplastic enamel, small yellow teeth, both milk and permanent teeth may be involved. It may also be associated with cleft lip, cleft palate, high arched palate, etc. Finger and toe deformities: skin adhesions between the 3rd and 4th toes and the 4th and 5th fingers, flexion of the fingers (toes), etc. Other anomalies: osteoporosis of bones of hands and feet, femoral head dysplasia; small and thin nose, anteriorly inclined nostrils; malformation of middle and outer ear; cryptorchidism, small penis, hypospadias; hair dishonor, etc. [Diagnosis] Diagnosis is made based on clinical manifestations. Pay attention to differentiate from Patau syndrome (trisomy of chromosome 13), which also has eye, ear and jaw abnormalities, but also small cranium, cardiovascular system malformations, polydactyly, etc. Most of the affected children die before three years of age, and the karyotype is 47, XX, +13 or 47, XY, +13. [Treatment] Ophthalmic treatment, prevention of dental caries, and deformities of nose and ear can be corrected by cosmetic plastic surgery Correction of deformities of the nose and ears can be performed by cosmetic surgery. Finger and toe deformities are treated with orthopedic surgery. [Prognosis] Normal life.