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Acrocraniofacial dysostosis

Orpha number ORPHA949
Synonym(s) Kaplan-Plauchu-Fitch syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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