MCID: SMS004
MIFTS: 18

Simosa Craniofacial Syndrome

Categories: Rare diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Simosa Craniofacial Syndrome

MalaCards integrated aliases for Simosa Craniofacial Syndrome:

Name: Simosa Craniofacial Syndrome 54 50
Simosa Cranio Facial Syndrome 50 69
Blepharophimosis-Telecanthus-Microstomia Syndrome 56
Flat Face-Microstomia-Ear Anomaly Syndrome 56
Simosa-Penchaszadeh-Bustos Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
flat face-microstomia-ear anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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 scoliosis, high forehead and long face. Affiliated tissues include bone and skin.

Description from OMIM: 182150

Related Diseases for Simosa Craniofacial Syndrome

Symptoms & Phenotypes for Simosa Craniofacial Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Eyes:
telecanthus
blepharophimosis
arched, sparse eyebrows

Head And Neck- Mouth:
microstomia
high, narrow palate

Voice:
nasal speech

Skin Nails & Hair- Hair:
arched, sparse eyebrows

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

Genitourinary- External Genitalia Male:
inguinal hernia

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

Skin Nails & Hair- Skin:
chin dimples


Clinical features from OMIM:

182150

Human phenotypes related to Simosa Craniofacial Syndrome:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 long face 56 32 very rare (1%) Very frequent (99-80%) HP:0000276
4 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
6 telecanthus 56 32 very rare (1%) Very frequent (99-80%) HP:0000506
7 broad forehead 56 32 very rare (1%) Very frequent (99-80%) HP:0000337
8 inguinal hernia 56 32 very rare (1%) Frequent (79-30%) HP:0000023
9 long philtrum 56 32 very rare (1%) Very frequent (99-80%) HP:0000343
10 wide nasal bridge 56 32 very rare (1%) Very frequent (99-80%) HP:0000431
11 long nose 56 32 very rare (1%) Very frequent (99-80%) HP:0003189
12 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
13 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
14 scrotal hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000046
15 blepharophimosis 56 32 very rare (1%) Very frequent (99-80%) HP:0000581
16 nasal speech 56 32 very rare (1%) Very frequent (99-80%) HP:0001611
17 downturned corners of mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0002714
18 malar flattening 56 32 very rare (1%) Very frequent (99-80%) HP:0000272
19 high, narrow palate 56 32 very rare (1%) Very frequent (99-80%) HP:0002705
20 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
21 narrow mouth 56 32 very rare (1%) Very frequent (99-80%) HP:0000160
22 underdeveloped nasal alae 56 32 very rare (1%) Very frequent (99-80%) HP:0000430
23 abnormality of the antihelix 56 32 hallmark (90%) Very frequent (99-80%) HP:0009738
24 highly arched eyebrow 56 32 very rare (1%) Very frequent (99-80%) HP:0002553
25 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
26 abnormality of the tragus 56 32 hallmark (90%) Very frequent (99-80%) HP:0009912
27 abnormality of oral mucosa 56 32 occasional (7.5%) Occasional (29-5%) HP:0011830
28 aplasia/hypoplasia of the earlobes 56 32 hallmark (90%) Very frequent (99-80%) HP:0009906
29 abnormality of the antitragus 56 32 hallmark (90%) Very frequent (99-80%) HP:0009896
30 low-set ears 32 very rare (1%) HP:0000369
31 posteriorly rotated ears 32 very rare (1%) HP:0000358
32 depressed nasal tip 32 very rare (1%) HP:0000437
33 chin dimple 56 Very frequent (99-80%)
34 abnormality of the pinna 32 very rare (1%) HP:0000377
35 cheekbone underdevelopment 56 Very frequent (99-80%)
36 abnormality of the skin 32 very rare (1%) HP:0000951
37 sparse eyebrow 56 Very frequent (99-80%)
38 sparse and thin eyebrow 32 very rare (1%) HP:0000535
39 dimple chin 32 hallmark (90%) HP:0010751
40 hypoplasia of the zygomatic bone 32 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:

39
Bone, Skin

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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