MCID: SMS004
MIFTS: 20

Simosa Craniofacial Syndrome

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Simosa Craniofacial Syndrome

MalaCards integrated aliases for Simosa Craniofacial Syndrome:

Name: Simosa Craniofacial Syndrome 53 49 55
Simosa Cranio Facial Syndrome 49 69
Blepharophimosis-Telecanthus-Microstomia Syndrome 55
Flat Face-Microstomia-Ear Anomaly Syndrome 55
Simosa-Penchaszadeh-Bustos Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
flat face-microstomia-ear anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
simosa craniofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Simosa Craniofacial Syndrome

MalaCards based summary : Simosa Craniofacial Syndrome, is also known as simosa cranio facial syndrome, and has symptoms including malar flattening, scoliosis and inguinal hernia. Affiliated tissues include skin and bone.

Description from OMIM: 182150

Related Diseases for Simosa Craniofacial Syndrome

Symptoms & Phenotypes for Simosa Craniofacial Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
posteriorly rotated ears
normal hearing
auricular malformation

Head And Neck Face:
long philtrum
broad forehead
long face
flat facies
chin dimples

Head And Neck Eyes:
telecanthus
blepharophimosis
arched, sparse eyebrows

Head And Neck Nose:
long nose
broad nasal bridge
flattened nasal tip
hypoplastic nostrils

Skin Nails Hair Hair:
arched, sparse eyebrows

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Mouth:
high, narrow palate
microstomia

Voice:
nasal speech

Skin Nails Hair Skin:
chin dimples


Clinical features from OMIM:

182150

Human phenotypes related to Simosa Craniofacial Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 very rare (1%) Very frequent (99-80%) HP:0000272
2 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
3 inguinal hernia 55 31 very rare (1%) Frequent (79-30%) HP:0000023
4 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 wide nasal bridge 55 31 very rare (1%) Very frequent (99-80%) HP:0000431
6 long philtrum 55 31 very rare (1%) Very frequent (99-80%) HP:0000343
7 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
9 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
10 high, narrow palate 55 31 very rare (1%) Very frequent (99-80%) HP:0002705
11 underdeveloped nasal alae 55 31 very rare (1%) Very frequent (99-80%) HP:0000430
12 telecanthus 55 31 very rare (1%) Very frequent (99-80%) HP:0000506
13 broad forehead 55 31 very rare (1%) Very frequent (99-80%) HP:0000337
14 abnormality of the antihelix 55 31 hallmark (90%) Very frequent (99-80%) HP:0009738
15 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
16 narrow mouth 55 31 very rare (1%) Very frequent (99-80%) HP:0000160
17 downturned corners of mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0002714
18 long face 55 31 very rare (1%) Very frequent (99-80%) HP:0000276
19 nasal speech 55 31 very rare (1%) Very frequent (99-80%) HP:0001611
20 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
21 blepharophimosis 55 31 very rare (1%) Very frequent (99-80%) HP:0000581
22 highly arched eyebrow 55 31 very rare (1%) Very frequent (99-80%) HP:0002553
23 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
24 abnormality of the tragus 55 31 hallmark (90%) Very frequent (99-80%) HP:0009912
25 long nose 55 31 very rare (1%) Very frequent (99-80%) HP:0003189
26 abnormality of oral mucosa 55 31 occasional (7.5%) Occasional (29-5%) HP:0011830
27 scrotal hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000046
28 aplasia/hypoplasia of the earlobes 55 31 hallmark (90%) Very frequent (99-80%) HP:0009906
29 abnormality of the antitragus 55 31 hallmark (90%) Very frequent (99-80%) HP:0009896
30 low-set ears 31 very rare (1%) HP:0000369
31 abnormality of the pinna 31 very rare (1%) HP:0000377
32 cheekbone underdevelopment 55 Very frequent (99-80%)
33 depressed nasal tip 31 very rare (1%) HP:0000437
34 chin dimple 55 Very frequent (99-80%)
35 abnormality of the skin 31 very rare (1%) HP:0000951
36 sparse eyebrow 55 Very frequent (99-80%)
37 posteriorly rotated ears 31 very rare (1%) HP:0000358
38 sparse and thin eyebrow 31 very rare (1%) HP:0000535
39 dimple chin 31 hallmark (90%) HP:0010751
40 hypoplasia of the zygomatic bone 31 hallmark (90%) HP:0010669

Drugs & Therapeutics for Simosa Craniofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Simosa Craniofacial Syndrome

Genetic Tests for Simosa Craniofacial Syndrome

Anatomical Context for Simosa Craniofacial Syndrome

MalaCards organs/tissues related to Simosa Craniofacial Syndrome:

38
Skin, Bone

Publications for Simosa Craniofacial Syndrome

Variations for Simosa Craniofacial Syndrome

Expression for Simosa Craniofacial Syndrome

Search GEO for disease gene expression data for Simosa Craniofacial Syndrome.

Pathways for Simosa Craniofacial Syndrome

GO Terms for Simosa Craniofacial Syndrome

Sources for Simosa Craniofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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