Oculoauricular syndrome, Schorderet type

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR
Number of Symptoms 17
OrphanetNr: 157962
OMIM Id: 612109
ICD-10: Q87.8
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: Major induction processes eye anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0012376) Microphakia 2 / 7739
3
(HPO:0007906) Increased intraocular pressure 30 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000589) Coloboma 47 / 7739
6
(HPO:0000639) Nystagmus 555 / 7739
7
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
8
(HPO:0001104) Macular hypoplasia 9 / 7739
9
(HPO:0000647) Sclerocornea 25 / 7739
10
(HPO:0000482) Microcornea 102 / 7739
11
(HPO:0000518) Cataract 454 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Morning glory-like dysplastic macropapillae 1 / 7739
14
(OMIM) Narrow intertragic notch 1 / 7739
15
(OMIM) Chorioretinal atrophic lacunae 1 / 7739
16
(OMIM) Lobular aplasia 1 / 7739
17
(OMIM) Abnormal bridge connecting the crus of the helix and antihelix 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Franceschetti and Valerio (1945) described a 3-year-old Swiss girl who had bilateral mild microphthalmia with marked corneal opacities similar to corneal sclerosis and increased intraocular pressure on the left, and whose vision was limited to perception of light. ...
Molecular genetics OMIM In 3 affected members of a consanguineous Swiss family with an oculoauricular syndrome mapping to chromosome 4p16, Schorderet et al. (2008) identified homozygosity for a 26-bp deletion in the HMX1 gene (142992.0001). The parents of the proband were ...