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 palpebral fissures
- High nasal bridge
- Nostril anteversion
- Short philtrum
- Cleft palate
- Micrognathia
- Ear abnormalities
- Preauricular sinus or cyst
Auditory
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