SAMS
MCID: SHR109
MIFTS: 32

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal 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 58 30 6
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 58 76 74
Sams 58 76
Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome 60
Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 41
Sams Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

33
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 : 76 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 prostate, and related phenotypes are malar flattening and high palate

OMIM : 58 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 top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 cobb syndrome 11.7
2 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 11.7
3 prostate cancer 10.6
4 charles bonnet syndrome 10.2
5 childhood type dermatomyositis 10.1
6 pancreatic ductal adenocarcinoma 10.1
7 horns in sheep 10.1
8 motion sickness 10.0
9 osteoporosis 10.0
10 gastric cancer 10.0
11 dermatitis 10.0
12 aplasia cutis congenita, nonsyndromic 9.9
13 atrial standstill 1 9.9
14 pelger-huet anomaly 9.9
15 cerebrotendinous xanthomatosis 9.9
16 prostate cancer, hereditary, 8 9.9
17 prostate cancer, hereditary, 6 9.9
18 blood group, junior system 9.9
19 ectodermal dysplasia 9.9
20 keratoconus 9.9
21 glucose intolerance 9.9
22 pustulosis of palm and sole 9.9
23 psoriasis 9.9
24 cleft lip 9.9
25 hypertrophic cardiomyopathy 9.9
26 cleft lip/palate 9.9
27 saethre-chotzen syndrome 9.8
28 ankyloblepharon-ectodermal defects-cleft lip/palate 9.8
29 blood group, colton system 9.8
30 breast cancer 9.8
31 colorectal cancer 9.8
32 hepatocellular carcinoma 9.8
33 cleft palate, isolated 9.8
34 rapp-hodgkin syndrome 9.8
35 hypercholesterolemia, familial 9.8
36 melorheostosis, isolated 9.8
37 pheochromocytoma 9.8
38 pelvic organ prolapse 9.8
39 rheumatoid arthritis 9.8
40 schizophrenia 9.8
41 tetralogy of fallot 9.8
42 autism 9.8
43 celiac disease 1 9.8
44 cystic fibrosis 9.8
45 arts syndrome 9.8
46 nance-horan syndrome 9.8
47 asthma 9.8
48 anxiety 9.8
49 fatty liver disease, nonalcoholic 1 9.8
50 psoriasis 14, pustular 9.8

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...

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

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 high palate 33 HP:0000218
3 short stature 33 HP:0004322
4 flexion contracture 33 HP:0001371
5 micrognathia 33 HP:0000347
6 feeding difficulties 33 HP:0011968
7 cryptorchidism 33 HP:0000028
8 talipes equinovarus 33 HP:0001762
9 hip dislocation 33 HP:0002827
10 rhizomelia 33 HP:0008905
11 deeply set eye 33 HP:0000490
12 downslanted palpebral fissures 33 HP:0000494
13 narrow mouth 33 HP:0000160
14 conductive hearing impairment 33 HP:0000405
15 hypotelorism 33 HP:0000601
16 atresia of the external auditory canal 33 HP:0000413
17 preauricular pit 33 HP:0004467
18 hypoplastic scapulae 33 HP:0000882
19 dislocated radial head 33 HP:0003083
20 short humerus 33 HP:0005792
21 delayed ossification of pubic rami 33 HP:0008785
22 scapulohumeral synostosis 33 HP:0006595

Symptoms via clinical synopsis from OMIM:

58
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

Genitourinary Internal Genitalia Male:
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

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 30 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:

42
Bone, Eye, Prostate, Testes, Liver, Adrenal Gland

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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