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 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.
References