Living with Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
A rare condition seen in infancy with wide-set eyes, small pits near the ears and eyes, blocked tear ducts, and hearing loss.
Understanding Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Features include wide-set eyes, small pits or openings in front of both ears, pits in the tear drainage openings (punctal pits), blocked tear ducts, and hearing loss. Palm creases and fingerprint patterns may look different. Shawl scrotum has also been reported. It may be seen in newborns and infants.
Signs & symptoms
GARD doesn't list common symptoms for this condition. It lists these as less common:
- Hearing loss
- Pit in front of the ear
- Blocked tear duct
- Wide-set eyes
- Pits in the tear openings
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: hppd; hppd (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome; hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome; hypertelorism, preauricular sinus, punctal pits, and deafness; hypertelorism, preauricular sinus, punctual pits, deafness syndrome; hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypertelorism-preauricular sinus-punctual pits-deafness syndrome.
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