MCID: SMS004
MIFTS: 20

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 57 53 59
Simosa Cranio Facial Syndrome 53 73
Blepharophimosis-Telecanthus-Microstomia Syndrome 59
Flat Face-Microstomia-Ear Anomaly Syndrome 59
Simosa-Penchaszadeh-Bustos Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
flat face-microstomia-ear anomaly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
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. Affiliated tissues include skin and bone, and related phenotypes are malar flattening and scoliosis

Description from OMIM: 182150

Related Diseases for Simosa Craniofacial Syndrome

Symptoms & Phenotypes for Simosa Craniofacial Syndrome

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 very rare (1%) Very frequent (99-80%) HP:0000272
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 inguinal hernia 59 32 very rare (1%) Frequent (79-30%) HP:0000023
4 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
5 wide nasal bridge 59 32 very rare (1%) Very frequent (99-80%) HP:0000431
6 long philtrum 59 32 very rare (1%) Very frequent (99-80%) HP:0000343
7 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
9 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
10 high, narrow palate 59 32 very rare (1%) Very frequent (99-80%) HP:0002705
11 underdeveloped nasal alae 59 32 very rare (1%) Very frequent (99-80%) HP:0000430
12 telecanthus 59 32 very rare (1%) Very frequent (99-80%) HP:0000506
13 broad forehead 59 32 very rare (1%) Very frequent (99-80%) HP:0000337
14 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
15 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
16 narrow mouth 59 32 very rare (1%) Very frequent (99-80%) HP:0000160
17 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
18 long face 59 32 very rare (1%) Very frequent (99-80%) HP:0000276
19 nasal speech 59 32 very rare (1%) Very frequent (99-80%) HP:0001611
20 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
21 blepharophimosis 59 32 very rare (1%) Very frequent (99-80%) HP:0000581
22 highly arched eyebrow 59 32 very rare (1%) Very frequent (99-80%) HP:0002553
23 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
24 abnormality of the tragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0009912
25 long nose 59 32 very rare (1%) Very frequent (99-80%) HP:0003189
26 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
27 aplasia/hypoplasia of the earlobes 59 32 hallmark (90%) Very frequent (99-80%) HP:0009906
28 abnormality of the antitragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0009896
29 low-set ears 32 very rare (1%) HP:0000369
30 abnormality of the pinna 32 very rare (1%) HP:0000377
31 cheekbone underdevelopment 59 Very frequent (99-80%)
32 abnormality of oral mucosa 59 Occasional (29-5%)
33 depressed nasal tip 32 very rare (1%) HP:0000437
34 chin dimple 59 Very frequent (99-80%)
35 abnormality of the skin 32 very rare (1%) HP:0000951
36 sparse eyebrow 59 Very frequent (99-80%)
37 posteriorly rotated ears 32 very rare (1%) HP:0000358
38 sparse and thin eyebrow 32 very rare (1%) HP:0000535
39 dimple chin 32 hallmark (90%) HP:0010751
40 abnormal oral mucosa morphology 32 occasional (7.5%) HP:0011830
41 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:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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