II. Epidemiology

  1. Autosomal Dominant (FGFR2 gene on Chromosome 10)
  2. Incidence: 1 in 160,000 live births

III. Clinical Findings

  1. Craniosynostosis
  2. Symmetric Syndactyly
  3. Coronal Suture synostosis (Brachycephaly)
  4. Wide set eyes
  5. Choanal Atresia

IV. Associated conditions

V. References

  1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]

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Ontology: Acrocephalosyndactylia (C1510455)

Definition (MSH) Congenital craniostenosis with syndactyly.
Definition (MSHCZE) Skupina vrozených vývojových vad s akrocefalem a polysyndaktylií. Např. Carpenterův syndrom. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
Concepts Congenital Abnormality (T019)
MSH D000168
ICD9 755.55
SnomedCT 63661009, 205257004, 268262006
English Acrocephalosyndactylias, Acrocephalopolysyndactyly, acrocephalosyndactyly (diagnosis), acrocephalosyndactyly, Acroencephalosyndactyly, Acrocephalosyndactylia [Disease/Finding], Syndrome, Kurczynski Casperson, Kurczynski Casperson Syndrome, Acrocephalosyndactyly, type I, Acrocephalosyndactyly, Acrocephalosyndactyly (disorder), acrocephalopolysyndactyly, Acrocephalosyndactylia
Dutch acrocefalosyndactylie, Acrocefalosyndactylie, Acrocraniosyndactylie, Apert, syndroom van, Syndactylie, acrocefalo-
Swedish Akrocefalosyndaktyli
Japanese タントウゴウシショウ, シーザー-ショッツェン症候群, パイフェル症候群, シーザー・ショッツェン症候群, Pfeiffer症候群, Saethre-Chotzen症候群, アペール症候群, 短頭合指症, 尖頭合指症, Apert症候群
Czech akrocefalosyndaktylie, Akrocefalosyndaktylie
Finnish Akrokefalosyndaktylia
Russian AKROTSEFALOSINDAKTILIIA, APERA SINDROM, PARKA-POVERA SINDROM, АКРОЦЕФАЛОСИНДАКТИЛИЯ, АПЕРА СИНДРОМ, ПАРКА-ПОВЕРА СИНДРОМ
French Acro-céphalo-syndactylie, Syndrome de Kurczynski-Casperson, Acrocéphalosyndactylie, ACPS
Croatian AKROCEFALOSINDAKTILIJA
Polish Zespół Aperta, Akrocefalosyndaktylia
Hungarian Acrocephalosyndactylia
Norwegian Akrocefalosyndaktyli
Spanish acroencefalosindactilia, acrocefalosindactilia, tipo I, acrocefalosindactilia (trastorno), acrocefalosindactilia, Acrocefalosindactilia
Italian Sindrome di Kurczynski-Casperson, Acrocefalosindattilia
German Akrozephalosyndaktylie
Portuguese Acrocefalossindactilia