Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Orpha code: 293958OMIM code: 614187

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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