" /> Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome - CISMeF





Preferred Label : Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome;

Symbol : DOORS;

CISMeF acronym : DOORS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Digitorenocerebral syndrome; Door syndrome; Eronen syndrome; Brachydactyly due to absence of distal phalanges; Drc syndrome; Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;

Description : The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive. See also DDOD syndrome (124480), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0007);

Laboratory abnormalities : Increased serum and urinary 2-oxoglutarate;

Prefixed ID : #220500;

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03/05/2025


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