Acrofacial dysostosis

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Classification according to ICD-10
Q75.4 Mandibulofacial dysostosis
ICD-10 online (WHO version 2019)

The term acrofacial dysostosis (AFD) is a group of congenital diseases that belong to the skeletal dysplasias and which have malformations of the acres and face (dysostosis mandibulofacialis) as their main common characteristics .

This group includes:

  • AFD1 type rodents (synonyms: Nager syndrome ; dysostosis, Acrofacial type rodents; Acrodysostosis, preaxial; dysostosis, Acrofacial type rodents; Mandibulofaziale dysostosis with präaxialen limb abnormalities; NAFD), common preaxial form, autosomal dominant , mutations in SF3B4- gene at locus 1q21.2
  • AFD type Genee-Wiedemann (synonyms: Miller syndrome; POADS), most common postaxial form, AR, mutations in the DHODH gene at 16q22.2
  • AFD type Catania (synonyms: Opitz-Mollica-Sorge-Syndrome)
  • AFD Palagonia type
  • AFD type Kennedy-Teebi , autosomal - recessive ,
  • AFD type Rodriguez (synonyms: Rodriguez Lethal Acrofacial Dysostosis Syndrome), autosomal recessive
  • AFD type Weyers (synonyms: Curry Hall syndrome; Weyer dysostosis, acrodental; WAD), autosomal dominant, mutations in the LBN gene at 4p16.2 or in the EVC gene at 1p16.2

The Patterson-Stevenson-Fontaine syndrome can also be included.

Individual evidence

  1. ↑ Acrofacial dysostosis. In: Orphanet (Rare Disease Database).
  2. ↑ Acrofacial dysostosis 1, rodent type.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  4. ↑ Rodent Syndrome. In: Orphanet (Rare Disease Database).
  5. ^ Miller syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Dysostosis, acrofacial postaxial. In: Orphanet (Rare Disease Database).
  7. ↑ Dysostosis, acrofacial, Catania type. In: Orphanet (Rare Disease Database).
  8. ↑ Dysostosis, acrofacial, palagonial type. In: Orphanet (Rare Disease Database).
  9. ↑ Dysostosis, acrofacial, Kennedy-Teebi type. In: Orphanet (Rare Disease Database).
  10. ↑ Acrofacial dysostosis, Rodriguez type. In: Orphanet (Rare Disease Database).
  11. ↑ Weyers acrofacial dysostosis.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ dysostosis acrofacial, type Weyer. In: Orphanet (Rare Disease Database).
  13. ↑ JM Opitz, F. Mollica, G. Sorge, G. Milana, G. Cimino, M. Caltabiano: Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. In: American journal of medical genetics. Vol. 47, No. 5, October 1993, pp. 660-678, doi : 10.1002 / ajmg.1320470517 , PMID 8266994 (review).