Main clinical characteristics of this syndrome
are the presence of congenital sensorineural deafness, mental retardation,
and onychoosteodystrophy, which consists of hypoplasia of the terminal
phalanges, triphalangeal thumbs, dysplastic or absent fingernails and
toenails, and pathologic (arch pattern) dermatoglyphics. Affected patients
usually develop seizures early in life, which may be difficult to control
and can cause death. Other, but less frequent, anomalies include
microcephaly, plagiocephaly, low-set ears, hypertelorism, broad nose with
large nostrils, thin upper lip with long philtrum, micrognathia,
retrognathia, and high arched palate. Cardiac defects and urinary tract
anomalies have been described. Mental retardation is not a feature of the
autosomal dominant transmitted form of the DOOR syndrome.