Acrocephalosyndactylia

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Acrocephalosyndactylia
ICD-10 Q87.0
ICD-9 755.55
MeSH D000168

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List of terms related to Acrocephalosyndactylia


Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]

It has several different types:

A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[12]

References

  1. Kodaka T, Kanamori Y, Sugiyama M, Hashizume K (2004). "A case of acrocephalosyndactyly with low imperforate anus". J. Pediatr. Surg. 39 (1): E32–4. PMID 14694405. Unknown parameter |month= ignored (help)
  2. DDB 33968
  3. Online Mendelian Inheritance in Man (OMIM) Apert syndrome -101200
  4. DDB 29331
  5. DDB 32145
  6. 6.0 6.1 Online Mendelian Inheritance in Man (OMIM) Pfeiffer syndrome -101600
  7. Online Mendelian Inheritance in Man (OMIM) Carpenter syndrome -201000
  8. Online Mendelian Inheritance in Man (OMIM) Acrocephalopolysyndactyly type III -101120
  9. Online Mendelian Inheritance in Man (OMIM) Acrocephalopolysyndactyly type IV -201020
  10. Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y (1979). "Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs". Clin. Genet. 15 (3): 209–14. PMID 421359. Unknown parameter |month= ignored (help)
  11. Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA (1987). "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". Am. J. Med. Genet. 28 (2): 311–24. doi:10.1002/ajmg.1320280208. PMID 3322002. Unknown parameter |month= ignored (help)
  12. Cohen MM, Kreiborg S (1995). "Hands and feet in the Apert syndrome". Am. J. Med. Genet. 57 (1): 82–96. doi:10.1002/ajmg.1320570119. PMID 7645606. Unknown parameter |month= ignored (help)

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