DOOR syndrome

Introduction: DOOR syndrome

Description of DOOR syndrome

DOOR syndrome (medical condition): A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).

See also:

Onychodystrophy - deafness:
  »Introduction: Onychodystrophy - deafness
  »Symptoms of Onychodystrophy - deafness

DOOR syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

DOOR syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that DOOR syndrome, or a subtype of DOOR syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list DOOR syndrome as a "rare disease".

Source - Orphanet

DOOR syndrome as a Disease

DOOR syndrome: Another name for Onychodystrophy - deafness (or close medical condition association).
  »Introduction: Onychodystrophy - deafness
  »Symptoms of Onychodystrophy - deafness

Symptoms of DOOR syndrome (Onychodystrophy - deafness)

Some of the symptoms of DOOR syndrome incude:

• Nail malformation
• Bone malformation
• Mental retardation
• Sensorineural deafness
• Malformation of inner ears

See full list of 14 symptoms of DOOR syndrome (Onychodystrophy - deafness)

Terms associated with DOOR syndrome:

Terms Similar to DOOR syndrome:

• Deafness, Onycho-Osteodystrophy, mental Retardation syndrome
• Deafness, congenital onychodystrophy, recessive form

Source - NIH

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