FRONTOOCULAR SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 31
OrphanetNr:
OMIM Id: 605321
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000581) Blepharophimosis 197 / 7739
2
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
3
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
4
(HPO:0000160) Narrow mouth 188 / 7739
5
(HPO:0000601) Hypotelorism 83 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0000218) High palate 356 / 7739
8
(HPO:0004440) Coronal craniosynostosis 38 / 7739
9
(HPO:0000243) Trigonocephaly 40 / 7739
10
(HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
11
(HPO:0001363) Craniosynostosis 132 / 7739
12
(HPO:0000426) Prominent nasal bridge 121 / 7739
13
(HPO:0000520) Proptosis 192 / 7739
14
(HPO:0000286) Epicanthus 371 / 7739
15
(HPO:0000508) Ptosis 459 / 7739
16
(HPO:0000545) Myopia 286 / 7739
17
(HPO:0000486) Strabismus 576 / 7739
18
(HPO:0000369) Low-set ears 372 / 7739
19
(HPO:0000358) Posteriorly rotated ears 163 / 7739
20
(HPO:0001263) Global developmental delay 853 / 7739
21
(HPO:0001256) Intellectual disability, mild 141 / 7739
22
(HPO:0003186) Inverted nipples 15 / 7739
23
(HPO:0000767) Pectus excavatum 244 / 7739
24
(HPO:0001052) Nevus flammeus 88 / 7739
25
(HPO:0001076) Glabellar hemangioma 4 / 7739
26
(HPO:0005306) Capillary hemangiomas 8 / 7739
27
(HPO:0001642) Pulmonic stenosis 89 / 7739
28
(HPO:0001631) Atria septal defect 274 / 7739
29
(OMIM) Thin philtrum 1 / 7739
30
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
(HPO:0012745) Short palpebral fissure 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: