Acrocraniofacial dysostosis

Acrocraniofacial dysostosis
Other namesKaplan Plauchu Fitch syndrome
SpecialtyMedical genetics
Usual onsetConception
DurationLifelong
CausesAutosomal recessive inheritance
Diagnostic methodRadiography
PreventionNone
PrognosisGood
Frequencyvery rare, only 2 cases have been described in medical literature
Deaths-

Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies.[1] Only 2 cases have been described in medical literature.[2]

Description

The following is a list of the symptoms of the disorder:[3]

Cranio-facial

Auditory

Osseous

Discovery

This disorder was first discovered in 1988 by Kaplan et al. when they described two sisters born to consanguineous parents with all the symptoms mentioned above. They suggested this disorder to be inherited in an autosomal recessive fashion.[4]

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrocraniofacial dysostosis". www.orpha.net. Archived from the original on 2020-09-28. Retrieved 2022-06-07.
  2. "OMIM Entry - 201050 - ACROCRANIOFACIAL DYSOSTOSIS". omim.org. Retrieved 2022-06-07.
  3. "Kaplan Plauchu Fitch syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2021-03-18. Retrieved 2022-06-07.
  4. Kaplan, P.; Plauchu, H.; Fitch, N.; Jéquier, S. (1988-01-01). "A new acro-cranio-facial dysostosis syndrome in sisters". American Journal of Medical Genetics. 29 (1): 95–106. doi:10.1002/ajmg.1320290112. ISSN 0148-7299. PMID 3344780. Archived from the original on 2022-06-07. Retrieved 2022-06-07.
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.