Neonatology Book

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Apert's Syndrome

Aka: Apert's Syndrome, Acrocephalosyndactyly
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  1. See Also
    1. Craniosynostosis
  2. Epidemiology
    1. Autosomal dominant (FGFR2 gene on chromosome 10)
    2. Incidence: 1 in 160,000 live births
  3. Clinical Findings
    1. Craniosynostosis
    2. Symmetric Syndactyly
    3. Coronal Suture synostosis (Brachycephaly)
    4. Wide set eyes
    5. Choanal Atresia
  4. Associated conditions
    1. Megalocephaly
    2. Cognitive Impairment
    3. Corpus callosum
    4. Atrial Septal Defect
    5. Ventricular Septal Defect
    6. Hydronephrosis
  5. References
    1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
    2. Kabbani (2004) Am Fam Physician 69:2863-70

Acrocephalosyndactylia (C1510455)

Definition (NCI) A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
Definition (MSH) Congenital craniostenosis with syndactyly.
Concepts Congenital Abnormality (T019)
MSH D000168
ICD9 755.55
SnomedCT 63661009, 268262006, 205257004
English Acrocephalosyndactylias, Acroencephalosyndactyly, Acrocephalopolysyndactyly, Acrocephalosyndactyly (Apert), Acrocephalosyndactyly, type I, acrocephalosyndactyly (diagnosis), acrocephalosyndactyly, Acrocephalosyndactylia [Disease/Finding], Syndrome, Kurczynski Casperson, Kurczynski Casperson Syndrome, Acrocephalosyndactyly, Acrocephalosyndactyly (disorder), acrocephalopolysyndactyly, Acrocephalosyndactylia, ACROCEPHALOSYNDACTYLY
Dutch acrocefalosyndactylie, Acrocefalosyndactylie, Acrocraniosyndactylie, Apert, syndroom van, Syndactylie, acrocefalo-
Swedish Akrocefalosyndaktyli
Japanese ﾀﾝﾄｳｺﾞｳｼｼｮｳ, 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, アペール症候群, 短頭合指症, 尖頭合指症, Apert症候群, Saethre-Chotzen症候群, Pfeiffer症候群
Czech akrocefalosyndaktylie, Akrocefalosyndaktylie
Spanish Acrocephalosyndactyly, acrocefalosindactilia, tipo I, acroencefalosindactilia, acrocefalosindactilia (trastorno), acrocefalosindactilia, Acrocefalosindactilia
Finnish Akrokefalosyndaktylia
Russian AKROTSEFALOSINDAKTILIIA, APERA SINDROM, PARKA-POVERA SINDROM, АПЕРА СИНДРОМ, ПАРКА-ПОВЕРА СИНДРОМ, АКРОЦЕФАЛОСИНДАКТИЛИЯ
French Acro-céphalo-syndactylie, Syndrome de Kurczynski-Casperson, Acrocéphalosyndactylie, ACPS
Croatian AKROCEFALOSINDAKTILIJA
Polish Akrocefalosyndaktylia, Zespół Aperta
Hungarian Acrocephalosyndactylia
Italian Acrocefalosindattilia
Portuguese Acrocefalossindactilia
German Akrozephalosyndaktylie
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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