Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Orpha code: 293958OMIM code: 614187

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.

Disease data
Classification

Malformation syndrome

Synonyms
HPPD
HPPD
Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-utrata słuchu
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
ORPHA code
293958
OMIM code
614187
ICD10 code
-
ICD11 code
-

No additional description.

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