Conductive deafness-ptosis-skeletal anomalies syndrome explained
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| Synonyms: | Jackson Barr syndrome |
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Conductive deafness-ptosis-skeletal anomalies syndrome, also known as Jackson Barr syndrome,[1] is a rare presumably autosomal recessive genetic disorder characterized by conductive hearing loss associated with external auditory canal-middle ear atresia which aggravates during ear infections, ptosis, and skeletal anomalies which consist of clinodactyly of the fifth fingers, radial head dislocation and internal rotation of the hips).[2] [3] Additional findings include thin nose, hair growth delays, and teeth dysplasia.[4] It has been described in two American sisters.[5]
Notes and References
- Web site: Roberts . Sean . Deafness conductive ptosis skeletal anomalies . 2022-08-11 . NORD (National Organization for Rare Disorders) . 16 June 2022 . en-US.
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Conductive deafness ptosis skeletal anomalies syndrome . 2022-08-11 . www.orpha.net . en.
- Web site: Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome . 2022-08-11 . DoveMed . en.
- Web site: Deafness conductive ptosis skeletal anomalies - About the Disease - Genetic and Rare Diseases Information Center . 2022-08-11 . rarediseases.info.nih.gov . en.
- Web site: Entry - 221320 - DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES - OMIM . 2022-08-11 . omim.org.
