DOOR is an acronym standing for sensorineural deafness,
onychodystrophy, osteodystrophy, microcephaly, and global developmental
retardation. The disorder is characterized by sensorineural deafness,
progressive blindness, onychodystrophy, triphalangeal thumbs, mental
retardation, and seizures.
Approximately 20 cases have been reported in the
There are two forms of this syndrome, one
being inherited autosomal dominantly (without mental retardation), the
other inherited autosomal recessively. Parental consanguinity is a risk
Diagnosis is mainly clinical. However, patients with the
recessive type and a more severe phenotype, who are classified as DOOR
syndrome type I (with early onset of seizures, i.e., within the first 6
months of life, and a progressive course with blindness, deafness, and early
death), show increased plasma and urinary concentrations of 2-oxoglutarate
and its metabolite α-hydroxyglutarate. (2-Oxoglutarate, a precursor
of glutamate, is involved in the regulation of gluconeogenesis in liver and
kidney and of ammoniagenesis in the kidney). DOOR syndrome type II is not
associated with increased concentrations of organic acids and shows a less
severe clinical course.
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.
Ensure that seizure control is
optimized. Administer the patient's medication up to the morning of surgery.
Check kidney function because urinary tract abnormalities are common in DOOR
syndrome type I. If cardiac disease is suspected, an ECG and echocardiogram
should be obtained.
In the presence of mental retardation,
deafness, and progressive blindness, the patient coming to the unknown
environment of the operating room may be anxious and agitated. Sedative and
anxiolytic premedication and the presence of the primary caregiver during
induction of anesthesia may be helpful. If the patient presents with
micrognathia or retrognathia, airway management should be expected to be
With anticonvulsive medication, the
hepatic enzyme system may be induced and the metabolism of other drugs with
predominantly hepatic elimination altered, requiring dose adjustment.
Eronen Syndrome: Genetic disorder characterized by severe
digital, renal, and cerebral malformations.
Coffin-Siris Syndrome: Probably an autosomal dominant transmitted
syndrome. Characteristics of the syndrome include developmental delay,
hypoplasia of the fifth digit nails and phalanges, sparse scalp hair, bushy
eyebrows, wide mouth, hirsutism, and prominent or hypertrophied lips.
Hess RO, Pecotte JK: Additional ...