Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome_ DOORS OMIM #220500
* This composite image of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS) was created to help geneticists get a better analysis

What is Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS)?

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and seizures syndrome (DOORS) is a rare congenital genetic condition that presents with a variety of different symptoms affecting multiple parts of the body.

There are just 50 cases diagnosed worldwide, to date.

The main features of the syndrome include intellectual disability, hearing impairment, and digit anomalies.

This syndrome is also known as:
Brachydactyly Due To Absence Of Distal Phalanges; DDOD; Digitorenocerebral Syndrome Door; Syndrome DOORS; syndrome DRC.

What gene change causes symptoms of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and seizures syndrome (DOORS)?

Mutations in the TBC1D24 gene are responsible for the syndrome. The syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and seizures syndrome (DOORS)?

The symptoms are mainly congenital and most are present at birth.

  • The main symptoms of the syndrome include deafness (related to the inner ears), short or absent nails, short fingers and toes as well as intellectual disability and developmental delay.
  • Seizures are a common symptom of the syndrome and they may take the form of different types of seizures that vary in intensity and severity.
  • Physical and facial features of the syndrome include a very small head, a wide and fat nose, narrow and high arched palate, and possible dental abnormalities.
  • Many individuals with the syndrome also have an extra bone and joint in the thumb.
  • Individuals may also experience heart and urinary tract issues. Low levels of the thyroid hormone may also be a symptom.

Possible clinical traits/features:
Coarse facial features, Malformation of the heart and great vessels, Dandy-Walker malformation, Cystic renal dysplasia, Everted lower lip vermilion, Nail dystrophy, Downturned corners of mouth, Brachydactyly, Prominent nose, Profound sensorineural hearing impairment, High myopia, Microcephaly, Progressive, Muscular hypotonia, Intellectual disability, Anteverted nares, Low-set ears, Long philtrum, Autosomal recessive inheritance, Seizure, Renal agenesis, Optic atrophy, Sensorineural hearing impairment, Hyporeflexia, Abnormality of the skin, High palate, Short distal phalanx of finger, Triphalangeal thumb, Nail dysplasia, Wide nasal bridge, Bulbous nose, Cataract, Anonychia, Cerebral atrophy, Bilateral sensorineural hearing impairment, Blindness.

How is it diagnosed?

To find out if someone has a diagnosis of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and seizures syndrome (DOORS), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome_ DOORS OMIM #220500
* This composite image of Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and seizures syndrome (DOORS) was created to help geneticists get a better analysis

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