Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Acrocraniofacial dysostosis

Synonym(s) Kaplan-Plauchu-Fitch syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q87.0
MeSH -
MedDRA -


Acro-cranio-facial dysostosis syndrome is characterized by short stature, acrocephaly, hypertelorism, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Only two cases of this association of unusual abnormalities have been described; they were in sisters born to consanguineous parents. Radiological abnormalities included craniosynostosis, increased mandibular angle, hypoplastic first metacarpals and metatarsals, hypoplastic distal phalanges and partial duplication of the distal phalanx of the thumb. Lumbar vertebrae were long, with increased interpedicular distance. Flared iliac wings, narrow supraacetabular regions and coxa valga were also observed. Autosomal recessive inheritance seems likely. The condition has been contrasted with OtoPalatoDigital (OPD) syndromes I and II.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.