Conductive deafness-ptosis-skeletal anomalies syndrome

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Conductive deafness-ptosis-skeletal anomalies syndrome
Other namesJackson Barr syndrome
Autosomal recessive - en.svg
Deaths-

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]

References

  1. ↑ Roberts, Sean (16 June 2022). "Deafness conductive ptosis skeletal anomalies". NORD (National Organization for Rare Disorders). Retrieved 2022-08-11.
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Conductive deafness ptosis skeletal anomalies syndrome". www.orpha.net. Retrieved 2022-08-11.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ↑ "Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome". DoveMed. Retrieved 2022-08-11.
  4. ↑ "Deafness conductive ptosis skeletal anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on January 8, 2017. Retrieved 2022-08-11.
  5. ↑ "Entry - 221320 - DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES - OMIM". omim.org. Retrieved 2022-08-11.


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