Ascher syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ASCHER SYNDROME
Blepharochalasis - double lip
Number of Symptoms 16
OrphanetNr: 1253
OMIM Id: 109900
ICD-10: Q87.0
UMLs: C0339085
MeSH:
MedDRA:
Snomed: 28599006

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
3
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
4
 (HPO:0010749) Blepharochalasis 3 / 7739
5
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
6
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
7
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
8
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
9
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
10
 (HPO:0000478) Abnormality of the eye 126 / 7739
11
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] 141 / 7739
12
 (HPO:0000853) Goiter Frequent [Orphanet] 39 / 7739
13
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
14
 (OMIM) Sagging eyelids 1 / 7739
15
 (OMIM) Double upper lip 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: