Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Synonyms: HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome |
| fr | Syndrome d'hypertélorisme-sinus pré-auriculaire-obstruction du canal lacrymal-surdité | HPPD |
| de | Hypertelorismus-Präaurikulärer Sinus - punktuelle Löcher -Schwerhörigkeit-Syndrom | HPPD |
| es | Síndrome de hipertelorismo-senos preauriculares-obstrucción del conducto lagrimal-sordera | HPPD · Síndrome de hipertelorismo-seno preauricular-obstrucción del conducto lagrimal-hipoacusia |
| it | Sindrome ipertelorismo, seno e fossette preuricolari, sordità | HPPD · Sindrome ipertelorismo-seno preauricolare-ostruzione del condotto lacrimale-perdita dell'udito |
| nl | Hypertelorisme - preauriculaire fistel - punctale fistels - doofheid-syndroom | HPPD · Hypertelorisme - preauriculaire fistel - punctale fistels - gehoorverlies-syndroom |
| pt | Síndrome hipertelorismo - seio preauricular - obstrução do ducto lacrimal - surdez | HPPD · Síndrome hipertelorismo - seio pré-auricular - obstrução do ducto lacrimal - surdez |
| pl | Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-głuchota | HPPD · Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-utrata słuchu |
| cs | Syndrom zahrnující hypertelorismus, preaurikální sinus, "punctal pits" a hluchotu | HPPD · Syndrom zahrnující hypertelorismus, preaurikální sinus, "punctal pits" a ztrátu sluchu |
| uk | Синдром гіпертелоризму-преаурикулярного синусу-точкових ямок-глухоти | HPPD · Синдром гіпертелоризму - преаурикулярного синусу - точкових ямок - приглухуватості |
| zh | 耳垂-耳前窦-点状凹陷-耳聋综合征 | 耳垂-耳前窦-点状凹-耳聋综合征 |
| tr | Hipertelorizm-preauriküler sinüs-punktal pit-sağırlık sendromu | HPPD · Hipertelorizm-preauriküler sinüs-punktual pits-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614187 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0013614 | E | validated | |
| UMLS | C4751125 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 21480481[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293958
- This record as JSON: /data/d/293958.json