About DOOR's Syndrome

Colin being held DOOR's Syndrome is a rare genetic disorder that may be recognized shortly after birth. 'DOOR,' an acronym for characteristic abnormalities associated with the syndrome, stands for Deafness, due to a defect of the inner ear or auditory nerve (sensorineural hearing loss); Onychodystrophy or malformation of the nails; Osteodystrophy, meaning malformation of certain bones; and mild to profound mental Retardation.


DOOR syndrome can also be considered a neurometabolic disorder. It can run a deteriorative course with progressive neurological manifestations including sensorineural deafness (meaning outer & middle ear deafness), seizures from infancy (usually manifesting around 6 weeks of age), optic atrophy (deterioration of the vision), and peripheral polyneuropathy.


Other occasional complications associated with DOOR syndrome are coarse facial features, dental (including palate related problems), cardiac and renal abnormalities. Some cases (approximately 1/2 -2/3 of reported cases) have elevated 2-oxoglutaric acid in their urine and plasma. Breathing complications are also quite common in DOOR. The range of severity is great. Some infants just have small bouts of apnea (stop breathing for short periods) that they would, in some fashion, outgrow, to others, being completely dependant on a ventilator for breathing. Another notable problem in infants/children with DOOR syndrome are feeding and digestive complications. In one article we read, 32% of those with DOOR syndrome had been documented with early childhood mortality, before the age of 2.


Colin with his Bear Unfortunately, the genetic marker has not been determined by science yet. Though science believes the marker will become known within the next 5-10 years. This can pose several problems for families with a child with known or probable DOOR syndrome. One, there is no known test prenatally for DOOR syndrome. Unless the child has an obvious brain malformation or heart defect, ultrasound may not detect this syndrome. Infants are not diagnosed until after they are delivered. DOOR syndrome can be mild to severe; though IQ is typically no greater than 70. Two, there are no genetic tests available to parents to determine if they have the autosomal recessive trait prior to conceiving. Three, because it is autosomal recessive, each pregnancy will carry a 25% chance of DOOR syndrome occurring again. There has been some link to parental consanguinity (parents are some how related). This was not one of our factors, however.


LoveababyFor Colin, DOOR syndrome gave us some answers. He had the obvious brain malformation and growth retardation in utero. This is how we came to find out there was going to be complications after his birth. After he was born, we came to find out more about why "DOOR Syndrome" was the most likely 'syndrome' Colin had. He had the finger and toe malformations, he had 13 ribs, he was blind and deaf, he had a high arched palate and his brain did not tell his body how to swallow or digest. Colin required very frequent suctioning and failed 3 separate nasal-gastric feedings (all very small amounts, simply to try and get Colin's gut to start absorbing and contracting). His brain just did not tell his stomach and intestines to contract. Colin's biggest problem was his ability to breathe. His brain did not tell his body how to effectively breathe. When he would breathe without assistance it was very shallow and without much effort. Therefore, he was not able to breath without the use of a permanent ventilator. And this is not scientific but, as his mother, the ' coarse facial features' science articles discussed did not apply to our Colin. Nor did the elevated 2-oxoglutaric acid apply to Colin's case.


MRI - side view MRI - top view