Kaplan Plauchu Fitch syndrome
Alternate names[edit | edit source]
Acrocraniofacial dysostosis
Definition[edit | edit source]
A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
NIH genetic and rare disease info[edit source]
Kaplan Plauchu Fitch syndrome is a rare disease.
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