150 top medical experts on Digitorenocerebral Syndrome across 21 countries and 9 U.S. states, including 10 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Digitorenocerebral Syndrome: Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D) eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound intellectual disability (represented by the "R"). In some cases, individuals may also experience seizures . This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Brachydactyly due to Absence of Distal Phalanges, DOOR Syndrome, And Mental Retardation Syndrome Osteodystrophy Onychodystrophy Deafness, Eronen Syndrome
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