SIMOSA CRANIOFACIAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 182150
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:0000431) Wide nasal bridge 2/2 [HPO:probinson] 290 / 7739
2
(HPO:0000337) Broad forehead 2/2 [HPO:probinson] 116 / 7739
3
(HPO:0010751) Chin dimple 16 / 7739
4
(HPO:0000272) Malar flattening 2/2 [HPO:probinson] 277 / 7739
5
(HPO:0003189) Long nose 2/2 [HPO:probinson] 20 / 7739
6
(HPO:0002553) Highly arched eyebrow 2/2 [HPO:probinson] 92 / 7739
7
(HPO:0000276) Long face 2/2 [HPO:probinson] 109 / 7739
8
(HPO:0000160) Narrow mouth 2/2 [HPO:probinson] 188 / 7739
9
(HPO:0000437) Depressed nasal tip 2/2 [HPO:probinson] 17 / 7739
10
(HPO:0000343) Long philtrum 2/2 [HPO:probinson] 262 / 7739
11
(HPO:0000535) Sparse and thin eyebrow 2/2 [HPO:probinson] 76 / 7739
12
(HPO:0000581) Blepharophimosis 2/2 [HPO:probinson] 197 / 7739
13
(HPO:0000506) Telecanthus 2/2 [HPO:probinson] 156 / 7739
14
(HPO:0000430) Underdeveloped nasal alae 2/2 [HPO:probinson] 90 / 7739
15
(HPO:0002705) High, narrow palate 2/2 [HPO:probinson] 308 / 7739
16
(HPO:0000377) Abnormality of the pinna 2/2 [HPO:probinson] 111 / 7739
17
(HPO:0000358) Posteriorly rotated ears 2/2 [HPO:probinson] 163 / 7739
18
(HPO:0000369) Low-set ears 2/2 [HPO:probinson] 372 / 7739
19
(HPO:0000023) Inguinal hernia 2/2 [HPO:probinson] 181 / 7739
20
(HPO:0000951) Abnormality of the skin 2/2 [HPO:probinson] 147 / 7739
21
(HPO:0001611) Nasal speech 2/2 [HPO:probinson] 48 / 7739
22
(OMIM) Flat facies 5 / 7739
23
(OMIM) Arched, sparse eyebrows 1 / 7739
24
(OMIM) Normal hearing 9 / 7739
25
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Simosa et al. (1989) described the cases of a mother and son with high forehead, elongated and flattened face, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose and hypoplastic nostrils, long philtrum, microstomia, high and narrow ...