MCID: SHR109
MIFTS: 30

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities

Categories: Genetic diseases, Ear diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

MalaCards integrated aliases for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

Name: Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 57 29 6
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 57 75 73
Sams 57 75
Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome 59
Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 40
Sams Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

UniProtKB/Swiss-Prot : 75 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.

MalaCards based summary : Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities, also known as short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, is related to cobb syndrome and erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige. An important gene associated with Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities is GSC (Goosecoid Homeobox). Affiliated tissues include bone, eye and testes, and related phenotypes are malar flattening and high palate

OMIM : 57 Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by Parry et al., 2013). (602471)

Related Diseases for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cobb syndrome 11.5
2 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 11.5
3 prostate cancer 10.4
4 aging 10.1
5 osteoporosis 9.9
6 gastric cancer 9.9
7 childhood type dermatomyositis 9.9
8 pancreatic ductal adenocarcinoma 9.9
9 ectodermal dysplasia 9.9
10 cleft lip 9.9
11 cleft lip/palate 9.9
12 ankyloblepharon-ectodermal defects-cleft lip/palate 9.7
13 breast cancer 9.7
14 colorectal cancer 9.7
15 cleft palate, isolated 9.7
16 pheochromocytoma 9.7
17 schizophrenia 9.7
18 autism 9.7
19 asthma 9.7
20 anxiety 9.7
21 cataract 9.7
22 tick-borne encephalitis 9.7
23 pneumonic plague 9.7
24 dirofilariasis 9.7
25 hypertrophic cardiomyopathy 9.7
26 prostatitis 9.7
27 dermatitis 9.7
28 plague 9.7
29 melorheostosis 9.7
30 neuronitis 9.7
31 homocystinuria 9.7
32 encephalitis 9.7
33 substance dependence 9.7
34 wells syndrome 9.7

Graphical network of the top 20 diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:



Diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities

Symptoms & Phenotypes for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Pelvis:
hip dislocation
narrow sacrosciatic notches
delayed ossification of pubic rami
absence of pubic bones

Skeletal Feet:
clubfoot

Head And Neck Mouth:
high-arched palate
small mouth

Neurologic Central Nervous System:
normal intelligence

Skeletal:
contractures

Genitourinary External Genitalia Male:
lack of testes
lack of scrotal sac

Head And Neck Face:
micrognathia
mandibular hypoplasia
malar hypoplasia

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Eyes:
hypotelorism
downslanting palpebral fissures
deep-set eyes

Skeletal Limbs:
rhizomelic shortening
radial head dislocation
bilateral humeral hypoplasia

Head And Neck Ears:
hearing loss, conductive
atretic external auditory canal
preauricular pits
abnormal middle ear ossicles
dysplastic pinnae

Skeletal Skull:
mandibular hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
scapular hypoplasia
humero-scapulo synostosis
shortening of the clavicles


Clinical features from OMIM:

602471

Human phenotypes related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 high palate 32 HP:0000218
3 short stature 32 HP:0004322
4 flexion contracture 32 HP:0001371
5 micrognathia 32 HP:0000347
6 feeding difficulties 32 HP:0011968
7 cryptorchidism 32 HP:0000028
8 hip dislocation 32 HP:0002827
9 rhizomelia 32 HP:0008905
10 deeply set eye 32 HP:0000490
11 downslanted palpebral fissures 32 HP:0000494
12 narrow mouth 32 HP:0000160
13 conductive hearing impairment 32 HP:0000405
14 talipes equinovarus 32 HP:0001762
15 hypotelorism 32 HP:0000601
16 atresia of the external auditory canal 32 HP:0000413
17 preauricular pit 32 HP:0004467
18 hypoplastic scapulae 32 HP:0000882
19 dislocated radial head 32 HP:0003083
20 short humerus 32 HP:0005792
21 delayed ossification of pubic rami 32 HP:0008785
22 scapulohumeral synostosis 32 HP:0006595

Drugs & Therapeutics for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Search Clinical Trials , NIH Clinical Center for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities

Genetic Tests for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Genetic tests related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

# Genetic test Affiliating Genes
1 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29 GSC

Anatomical Context for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

MalaCards organs/tissues related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

41
Bone, Eye, Testes

Publications for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Articles related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

# Title Authors Year
1
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. ( 24290375 )
2013
2
SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. ( 9475592 )
1998

Variations for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

ClinVar genetic disease variations for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSC NM_173849.2(GSC): c.196_212del17 (p.Gly66Argfs) deletion Pathogenic rs587777288 GRCh37 Chromosome 14, 95236141: 95236157
2 GSC NM_173849.2(GSC): c.196_212del17 (p.Gly66Argfs) deletion Pathogenic rs587777288 GRCh38 Chromosome 14, 94769804: 94769820
3 GSC NM_173849.2(GSC): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic rs587777289 GRCh37 Chromosome 14, 95235510: 95235510
4 GSC NM_173849.2(GSC): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic rs587777289 GRCh38 Chromosome 14, 94769173: 94769173
5 GSC NM_173849.2(GSC): c.355+1G> C single nucleotide variant Pathogenic rs587777290 GRCh37 Chromosome 14, 95235997: 95235997
6 GSC NM_173849.2(GSC): c.355+1G> C single nucleotide variant Pathogenic rs587777290 GRCh38 Chromosome 14, 94769660: 94769660

Expression for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Search GEO for disease gene expression data for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities.

Pathways for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

GO Terms for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Sources for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

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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