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Bamforth-Lazarus syndrome

Disease definition

A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

ORPHA:1226

Classification level: Disorder
  • Synonym(s):
    • Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
    • Bamforth syndrome
    • Hypothyroidism-cleft palate syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: E03.1
  • OMIM: 241850
  • UMLS: C1855794
  • MeSH: C537901
  • GARD: 414
  • MedDRA: -

Detailed information

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