Orphanet: Hypertelorism preauricular sinus punctual pits deafness syndrome
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Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Disease definition

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.

ORPHA:293958

Classification level: Disorder
  • Synonym(s):
    • HPPD
    • Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 614187
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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