Neonatology Book

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Apert's SyndromeAka: 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

Acrocephalosyndactylia (C1510455)

Definition (MSH)Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)
ConceptsCongenital Abnormality (T019) , Disease or Syndrome (T047)
ICD9755.55
EnglishAcrocephalosyndactylia, Acrocephalosyndactylias, Acrocephalosyndactyly, Acroencephalosyndactyly, ACS I, ACS1, APERT SYNDROME
Spanishacrocefalosindactilia, acroencefalosindactilia
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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