Acrocraniofacial dysostosis

Acrocraniofacial dysostosis
Other names	Kaplan Plauchu Fitch syndrome
Specialty	Medical genetics
Usual onset	Conception
Duration	Lifelong
Causes	Autosomal recessive inheritance
Diagnostic method	Radiography
Prevention	None
Prognosis	Good
Frequency	very 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

• Acrocephaly
• Hypertelorism
• Ptosis
• Proptosis
• Down-slanting palpebral fissures
• High nasal bridge
• Nostril anteversion
• Short philtrum
• Cleft palate
• Micrognathia
• Ear abnormalities
• Preauricular sinus or cyst

Auditory

• Hearing loss

Osseous

• Metatarsus adductus
• First brachymetacarpia
• First brachymetatarsia
• Proximally placed first toes
• Craniosynostosis
• Pectus excavatum
• Partial duplication of the thumb's distal phalanx
• Malleus and incus dysplasia
• Tall lumbar vertebrae associated with increased interpedicular distance

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.