Dental features: * small teeth in males * pointed (screwdriver shaped or conical) incisors (sometimes called Hutchinson teeth) * incisors with an irregular incisal edge * canines: enlarged and globular; may be dome or bud shaped with trilobed edge * premolars and molars: small, round and globular; may have supernumary lobes (mulberry or lotus flower shape) * widely separated teeth (diastemma) * hypoplastic enamel * dental agenesis * presence of mesiodents (median incisor behind normal upper incisors) * pulp chamber anomalies Facial features: * anteverted pinnae * long face * prominent nasal bridge and nose * prognathism occasionally Ophthalmic features: * bilateral congenital nuclear opacities (100%) * severe amblyopia * nystagmus (93%) * strabismus (43%) * microcornea (96%) * congenital glaucoma * scleral staphylomas * retinal cystoid degeneration * microphthalmia These lead to severe visual impairment in affected males. Other: * The fourth metacarpal may be shortened 30% of patients also have some degree of intellectual impairment: of these 80% are mildly to moderately affected: the other 20% may have developmental delays and behavior problems. Carrier females display milder variable symptoms of disease. Ocular signs are present in 90% of heterozygous females. These are typically lens opacities often involving the posterior Y sutures. More rarely dental anomalies and the characteristic facial features may also occur.
Nance–Horan syndrome
Gouverneur's syndrome
Seaver Cassidy syndrome
Warkany syndrome
Temple–Baraitser syndrome
Bart–Pumphrey syndrome
Urban–Rogers–Meyer syndrome
Dorian Gray syndrome