DOOR syndrome

DOOR Syndrome

DOOR syndrome (pronounced: /dɔːr/ syndrome) is a rare genetic disorder that affects multiple parts of the body. The name is an acronym for the main features of the disorder: Deafness, Onycho-Osteodystrophy, mental Retardation, and Seizures.

Etymology

The term "DOOR" is an acronym derived from the main features of the disorder: Deafness, Onycho-Osteodystrophy, mental Retardation, and Seizures. The syndrome was first described in the medical literature by Dr. R. A. E. Stewart in 1978.

Symptoms

The symptoms of DOOR syndrome can vary greatly among affected individuals. The most common symptoms include:

• Deafness: Most individuals with DOOR syndrome have some degree of hearing loss.
• Onycho-Osteodystrophy: This refers to abnormalities of the nails and bones. Individuals with DOOR syndrome may have underdeveloped or absent nails, and may also have bone abnormalities.
• Mental Retardation: Many individuals with DOOR syndrome have intellectual disabilities.
• Seizures: Some individuals with DOOR syndrome experience seizures.

Causes

DOOR syndrome is caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein that is involved in cell communication. Mutations in this gene disrupt the normal function of the protein, leading to the symptoms of DOOR syndrome.

Diagnosis

Diagnosis of DOOR syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the TBC1D24 gene.

Treatment

There is currently no cure for DOOR syndrome. Treatment is symptomatic and supportive, and may include hearing aids for deafness, physical therapy for bone abnormalities, special education for intellectual disabilities, and medication for seizures.

See also

• Genetic disorder
• Deafness
• Onycho-Osteodystrophy
• Retardation
• Seizures
• TBC1D24

External links

• Medical encyclopedia article on DOOR syndrome
• Wikipedia's article - DOOR syndrome

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