Orphanet: Acrocraniofacial dysostosis
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Acrocraniofacial dysostosis

Disease definition

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.

ORPHA:949

Classification level: Disorder
  • Synonym(s):
    • Kaplan-Plauchu-Fitch syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 201050
  • UMLS: C1860145
  • MeSH: -
  • GARD: 3075
  • MedDRA: -

  A summary on this disease is available in Italiano (2015) Deutsch (2005) Español (2015) Français (2015) Nederlands (2015)

Additional information

Further information on this disease

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