Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HPPD
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Number of Symptoms 11
OrphanetNr: 293958
OMIM Id: 614187
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum rare [HPO:skoehler] 31 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000579) Nasolacrimal duct obstruction rare [HPO:skoehler] 9 / 7739
4
 (HPO:0004467) Preauricular pit 39 / 7739
5
 (HPO:0000365) Hearing impairment 539 / 7739
6
 (OMIM) Preauricular sinus, bilateral 1 / 7739
7
 (OMIM) Bridge between vertical and transverse proximal palmar flexion creases 1 / 7739
8
 (OMIM) Vertical crease in fourth interdigital space 1 / 7739
9
 (OMIM) Transverse distal crease across palm 1 / 7739
10
 (OMIM) Punctal pits (in some patients) 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sampath et al. (2011) studied a large 5-generation African American pedigree in which the 29-day-old proband and his 32-year-old father had bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hypertelorism, bilateral distal axial triradii, abnormal palmar flexion ...
Molecular genetics OMIM In a large 5-generation African American pedigree with variable branchial cleft anomalies mapping to chromosome 14q31.1-q31.3, Sampath et al. (2011) analyzed 7 candidate genes but did not identify any pathogenic mutations in the exons or splice junctions, and ...