Acrocraniofacial dysostosis explained

Acrocraniofacial dysostosis
Synonyms:	Kaplan Plauchu Fitch syndrome
Onset:	Conception
Duration:	Lifelong
Causes:	Autosomal recessive inheritance
Risk:	-->
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]

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Acrocraniofacial dysostosis . 2022-06-07 . www.orpha.net . en . 2020-09-28 . https://web.archive.org/web/20200928215610/https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=949 . live .
2. Web site: OMIM Entry - 201050 - ACROCRANIOFACIAL DYSOSTOSIS . 2022-06-07 . omim.org . en-us.
3. Web site: Kaplan Plauchu Fitch syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-07 . rarediseases.info.nih.gov . en . 2021-03-18 . https://web.archive.org/web/20210318043009/https://rarediseases.info.nih.gov/diseases/3075/kaplan-plauchu-fitch-syndrome . live .
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 . 10.1002/ajmg.1320290112 . 0148-7299 . 3344780 . 2022-06-07 . 2022-06-07 . https://web.archive.org/web/20220607201227/https://pubmed.ncbi.nlm.nih.gov/3344780/ . live .