Gamuts

DOOR syndrome

DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. [Source: Wikipedia ]

May Cause
Absent digit
Absent thumb
Brachydactyly
Clinodactyly
Clinodactyly of fifth finger
Cone-shaped epiphysis
Congenital short hands and feet
Deafness
Defective dentition
Delayed dentition
Dental defect
Hypoplastic thumb
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Short and broad distal phalanges of hand
Short proximal phalanx
Short thumb
Syndactyly
Triphalangeal thumb
May Cause
Absent digit
Absent thumb
Brachydactyly
Clinodactyly
Clinodactyly of fifth finger
Cone-shaped epiphysis
Congenital short hands and feet
Deafness
Defective dentition
Delayed dentition
Dental defect
Hypoplastic thumb
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Short and broad distal phalanges of hand
Short proximal phalanx
Short thumb
Syndactyly
Triphalangeal thumb


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