Acrocraniofacial dysostosis
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. Only 2 cases have been described in medical literature.

Description
The following is a list of the symptoms of the disorder:

Cranio-facial
Acrocephaly
Hypertelorism
Ptosis
Proptosis
Down-slanting parpebral 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 thumbs 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.


== References ==