Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

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Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Synonyms: HPPD | Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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