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DOORS syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

DOORS syndrome

DOORS syndrome is a rare congenital disorder characterized by a specific set of features including deafness, nail abnormalities, bone changes, developmental delay, and seizures.

Overview

DOORS syndrome is a disorder involving multiple abnormalities present from birth. The name is an abbreviation for the major features of the condition: deafness, onychodystrophy (nail abnormalities), osteodystrophy (short fingers and toes), developmental delay and intellectual disability, and seizures. Not all affected individuals exhibit every feature.

Symptoms

  • Sensorineural deafness: Most individuals experience profound hearing loss.
  • Developmental and intellectual challenges: Developmental delay and intellectual disability are often severe.
  • Nail and bone abnormalities: Onychodystrophy affects both hands and feet. Osteodystrophy is caused by impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges). Some individuals have an extra bone and joint in their thumbs.
  • Seizures: Typically starting in infancy, these may include generalized tonic-clonic (grand mal), partial, absence, or myoclonic seizures. In some cases, seizures become severe and difficult to control, potentially leading to status epilepticus.
  • Other features: Small head size (microcephaly), facial differences (such as a wide nasal bridge), dental abnormalities, structural heart or urinary tract issues, and hypothyroidism.
  • Metabolic markers: Many individuals have higher-than-normal levels of 2-oxoglutaric acid in their urine.

Causes & Risk Factors

DOORS syndrome can be caused by mutations in the TBC1D24 gene. While the specific function of the TBC1D24 protein is not fully understood, it is believed to play a role in the transport of vesicles within cells and may help cells respond to oxidative stress. It is particularly active in the brain and in specialized structures called stereocilia in the inner ear.

In approximately half of affected individuals, no TBC1D24 mutation has been identified, and the cause remains unknown.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not show symptoms.

Frequently Asked Questions

Testing is recommended for siblings and, if the mutation is de novo, usually not for parents. However, parental carrier testing can clarify recurrence risk (generally <1 %). For future pregnancies, prenatal diagnosis can be offered via chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) with targeted sequencing of TBC1D24. Pre‑implantation genetic testing (PGT‑M) is also an option for couples using IVF.
Seizure types are variable; many patients respond to broad‑spectrum agents such as levetiracetam, valproic acid, or topiramate. Because seizures can become refractory, a neurologist should monitor EEG patterns and drug levels closely. If two or more appropriate medications fail to control seizures after an adequate trial (usually 3‑6 months each), referral to an epilepsy center for video‑EEG monitoring and evaluation for surgical options (e.g., focal resection, vagus‑nerve stimulation) is recommended.
Newborn hearing screening (ABR or OAE) should be done within the first 48 hours of life. If profound sensorineural loss is confirmed, early referral to a pediatric audiologist is essential. Options include behind‑the‑ear hearing aids, bone‑anchored hearing systems, or cochlear implants (the latter often considered after age 12‑18 months if auditory nerve is intact). Early auditory habilitation improves speech development and reduces later language delays.
Nail abnormalities are usually managed conservatively with regular trimming, moisturizers, and protective gloves to prevent trauma. Orthopedic evaluation is advised if terminal phalanges are markedly hypoplastic or if a supernumerary thumb joint limits hand function. Splinting, occupational therapy, and, in selected cases, surgical reconstruction (e.g., bone grafting or tendon transfer) can improve grip and fine‑motor skills.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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