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ORPHA:79500Malformation syndrome
Also called Autosomal recessive deafness-onychodystrophy syndrome · Autosomal recessive hearing loss-onychodystrophy syndrome · DOOR syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome · Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Deafness-onychoosteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome · Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Hearing loss-onychoosteodystrophy-intellectual disability syndrome
What it is
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13Common30–79%
22- Aplasia/Hypoplasia of the phalanges of the 2nd toe
- Bilateral tonic-clonic seizure
- Bulbous nose
- Clinodactyly of the 5th finger
- Coarse facial features
- Downturned corners of mouth
- Epicanthus
- Floppy infant
- Focal impaired awareness seizure
- Hypertelorism
- Hyporeflexia
- Increased urine alpha-ketoglutarate concentration
- Low anterior hairline
- Low-set ears
- Open mouth
- Polyhydramnios
- Poor suck
- Short 5th finger
- Short distal phalanx of finger
- Thickened nuchal skin fold
- Thick lower lip vermilion
- Thin upper lip vermilion
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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