MCID: SMS004
MIFTS: 18

Simosa Craniofacial Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Simosa Craniofacial Syndrome

MalaCards integrated aliases for Simosa Craniofacial Syndrome:

Name: Simosa Craniofacial Syndrome 56 52 58
Simosa Cranio Facial Syndrome 52 71
Blepharophimosis-Telecanthus-Microstomia Syndrome 58
Flat Face-Microstomia-Ear Anomaly Syndrome 58
Simosa-Penchaszadeh-Bustos Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
flat face-microstomia-ear anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
simosa craniofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 182150
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1866962
Orphanet 58 ORPHA1968
MedGen 41 C1866962
UMLS 71 C1866962

Summaries for Simosa Craniofacial Syndrome

MalaCards based summary : Simosa Craniofacial Syndrome, is also known as simosa cranio facial syndrome. Affiliated tissues include bone and skin, and related phenotypes are malar flattening and macrotia

More information from OMIM: 182150

Related Diseases for Simosa Craniofacial Syndrome

Symptoms & Phenotypes for Simosa Craniofacial Syndrome

Human phenotypes related to Simosa Craniofacial Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 very rare (1%) Very frequent (99-80%) HP:0000272
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 wide nasal bridge 58 31 very rare (1%) Very frequent (99-80%) HP:0000431
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 underdeveloped nasal alae 58 31 very rare (1%) Very frequent (99-80%) HP:0000430
6 long philtrum 58 31 very rare (1%) Very frequent (99-80%) HP:0000343
7 highly arched eyebrow 58 31 very rare (1%) Very frequent (99-80%) HP:0002553
8 high, narrow palate 58 31 very rare (1%) Very frequent (99-80%) HP:0002705
9 narrow mouth 58 31 very rare (1%) Very frequent (99-80%) HP:0000160
10 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
11 telecanthus 58 31 very rare (1%) Very frequent (99-80%) HP:0000506
12 broad forehead 58 31 very rare (1%) Very frequent (99-80%) HP:0000337
13 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
14 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
15 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
16 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
17 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
18 long face 58 31 very rare (1%) Very frequent (99-80%) HP:0000276
19 nasal speech 58 31 very rare (1%) Very frequent (99-80%) HP:0001611
20 blepharophimosis 58 31 very rare (1%) Very frequent (99-80%) HP:0000581
21 abnormality of the tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009912
22 long nose 58 31 very rare (1%) Very frequent (99-80%) HP:0003189
23 abnormality of the antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009896
24 dimple chin 31 hallmark (90%) HP:0010751
25 sparse and thin eyebrow 31 very rare (1%) HP:0000535
26 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
27 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
28 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
29 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
30 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
31 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
32 abnormal oral mucosa morphology 31 occasional (7.5%) HP:0011830
33 low-set ears 31 very rare (1%) HP:0000369
34 abnormality of the pinna 31 very rare (1%) HP:0000377
35 posteriorly rotated ears 31 very rare (1%) HP:0000358
36 depressed nasal tip 31 very rare (1%) HP:0000437
37 abnormality of the skin 31 very rare (1%) HP:0000951
38 chin dimple 58 Very frequent (99-80%)
39 abnormality of oral mucosa 58 Occasional (29-5%)
40 sparse eyebrow 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Bone, Skin

Publications for Simosa Craniofacial Syndrome

Articles related to Simosa Craniofacial Syndrome:

# Title Authors PMID Year
1
A new syndrome with distinct facial and auricular malformations and dominant inheritance. 56
2929657 1989

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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