FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 601552
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000444) Convex nasal ridge 87 / 7739
2
(HPO:0003683) Large beaked nose 4 / 7739
3
(HPO:0001999) Abnormal facial shape 169 / 7739
4
(HPO:0000448) Prominent nose 56 / 7739
5
(HPO:0000445) Wide nose rare [HPO:skoehler] 190 / 7739
6
(HPO:0000689) Dental malocclusion 114 / 7739
7
(HPO:0000278) Retrognathia 100 / 7739
8
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
9
(HPO:0001089) Iris atrophy 8 / 7739
10
(HPO:0001083) Ectopia lentis 45 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Patchy iris atrophy 1 / 7739
13
(OMIM) Avascular bulbar conunctival elevations 1 / 7739
14
(OMIM) Iridocorneal adhesions 1 / 7739
15
(OMIM) Variable angle cosure 1 / 7739
16
(OMIM) Triangular retracted chin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shawaf et al. (1995) noted an association of craniofacial dysmorphism (antimongoloid slanting of the palpebral fissures, large beaked nose, triangular retracted chin, dental malocclusion), ectopia lentis, variable degree of angle closure secondary to iridocorneal adhesions, patchy areas of ...