Acrocraniofacial dysostosis
Medical condition From Wikipedia, the free encyclopedia
Medical condition From Wikipedia, the free encyclopedia
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]
| 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 | - |
The following is a list of the symptoms of the disorder:[3]
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]
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