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SPECC1L-related hypertelorism syndrome

Disease definition

A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.

ORPHA:1519

Classification level: Disorder
  • Synonym(s):
    • Brachycephalofrontonasal dysplasia
    • Teebi hypertelorism syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 145420
  • UMLS: C1840378
  • MeSH: -
  • GARD: 957
  • MedDRA: -
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