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Craniosynostosis, Boston type

Disease definition

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

ORPHA:1541

  • Synonym(s):
    • Craniosynostosis, Warman type
    • Warman-Mulliken-Hayward syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q75.8
  • OMIM: 604757
  • UMLS: C2931287
  • MeSH: -
  • GARD: 5538
  • MedDRA: -

Additional information

Further information on this disease

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