MCID: MLT059
MIFTS: 28

Multiple Synostoses Syndrome 1

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

MalaCards integrated aliases for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 57 53 75
Symphalangism-Brachydactyly Syndrome 57 75 29 6 73
Syns1 57 53 75 55
Deafness-Symphalangism Syndrome of Herrmann 57 53 75
Facioaudiosymphalangism Syndrome 57 53 75
Wl Syndrome 57 53 75
Synostoses Multiple with Brachydactyly 53 75
Synostoses, Multiple, with Brachydactyly 57
Synostoses Syndrome, Multiple, Type 1 40
Symphalangism Brachydactyly Syndrome 53

Characteristics:

OMIM:

57
Miscellaneous:
waddling gait
allelic to proximal symphalangism , stapes ankylosis syndrome without symphalangism , and tarsal-carpal coalition syndrome

Inheritance:
autosomal dominant


HPO:

32
multiple synostoses syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Synostoses Syndrome 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3237Disease definitionMultiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.Visit the Orphanet disease page for more resources.

MalaCards based summary : Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction and multiple synostoses syndrome, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin). Affiliated tissues include bone and skin, and related phenotypes are thick upper lip vermilion and thin upper lip vermilion

OMIM : 57 Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). (186500)

UniProtKB/Swiss-Prot : 75 Multiple synostoses syndrome 1: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

Related Diseases for Multiple Synostoses Syndrome 1

Diseases in the Multiple Synostoses Syndrome family:

Multiple Synostoses Syndrome 1 Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3 Multiple Synostoses Syndrome 4

Diseases related to Multiple Synostoses Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 11.5
2 multiple synostoses syndrome 11.3
3 multiple synostoses syndrome 4 11.0
4 brachydactyly 10.1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
6 ankylosis 9.9

Graphical network of the top 20 diseases related to Multiple Synostoses Syndrome 1:



Diseases related to Multiple Synostoses Syndrome 1

Symptoms & Phenotypes for Multiple Synostoses Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short sternum
anteriorly positioned shoulders
prominent costochondral junction

Head And Neck Eyes:
strabismus

Head And Neck Face:
short philtrum
narrow face

Skeletal Feet:
absent distal phalanges
short feet
short halluces
tarsal fusions
cutaneous 2,3 toe syndactyly
more
Head And Neck Ears:
stapes ankylosis
progressive conductive deafness

Skin Nails Hair Skin:
single palmar creases
absence of skin creases over proximal interphalangeal (pip) joints
absence of skin creases over distal interphalangeal (dip) joints

Skeletal Hands:
clinodactyly
brachydactyly
proximal symphalangism (2,3,4)
fusion of midphalangeal joints
cutaneous syndactyly (2,3,4)
more
Skeletal Limbs:
cubitus valgus
dislocated radial head
short legs
short upper arms
limited forearm pronation/supination

Skeletal Spine:
spinal canal stenosis
vertebral anomalies
hypoplastic spinal processes (cervical vertebrae)

Head And Neck Nose:
hypoplastic nasal septum
hypoplastic alae nasi
hemicylindrical nose

Head And Neck Mouth:
thin vermilion border of upper lip

Skin Nails Hair Nails:
aplastic/hypoplastic fingernails
aplastic/hypoplastic toenails


Clinical features from OMIM:

186500

Human phenotypes related to Multiple Synostoses Syndrome 1:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 thick upper lip vermilion 32 HP:0000215
2 thin upper lip vermilion 32 HP:0000219
3 narrow face 32 HP:0000275
4 short philtrum 32 HP:0000322
5 stapes ankylosis 32 HP:0000381
6 underdeveloped nasal alae 32 HP:0000430
7 strabismus 32 HP:0000486
8 pectus excavatum 32 HP:0000767
9 short sternum 32 HP:0000879
10 enlargement of the costochondral junction 32 HP:0000920
11 single transverse palmar crease 32 HP:0000954
12 absent distal interphalangeal creases 32 HP:0001032
13 brachydactyly 32 HP:0001156
14 short foot 32 HP:0001773
15 anonychia 32 HP:0001798
16 waddling gait 32 HP:0002515
17 cubitus valgus 32 HP:0002967
18 dislocated radial head 32 HP:0003083
19 spinal canal stenosis 32 HP:0003416
20 abnormal vertebral morphology 32 HP:0003468
21 2-3 toe syndactyly 32 HP:0004691
22 hypoplastic nasal septum 32 HP:0005104
23 short humerus 32 HP:0005792
24 absent distal phalanges 32 HP:0005807
25 proximal symphalangism of hands 32 HP:0006152
26 fusion of midphalangeal joints 32 HP:0006187
27 short lower limbs 32 HP:0006385
28 tarsal synostosis 32 HP:0008368
29 hypoplastic spinal processes 32 HP:0008460
30 progressive conductive hearing impairment 32 HP:0008607
31 radial deviation of finger 32 HP:0009466
32 carpal synostosis 32 HP:0009702
33 lower limb undergrowth 32 HP:0009816
34 aplasia/hypoplasia of the middle phalanges of the hand 32 HP:0009843
35 short hallux 32 HP:0010109
36 cutaneous finger syndactyly 32 HP:0010554
37 aplastic/hypoplastic toenail 32 HP:0010624
38 clinodactyly 32 HP:0030084

UMLS symptoms related to Multiple Synostoses Syndrome 1:


waddling gait

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

Genetic tests related to Multiple Synostoses Syndrome 1:

# Genetic test Affiliating Genes
1 Symphalangism-Brachydactyly Syndrome 29 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

41
Bone, Skin

Publications for Multiple Synostoses Syndrome 1

Articles related to Multiple Synostoses Syndrome 1:

# Title Authors Year
1
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. ( 4469994 )
1974

Variations for Multiple Synostoses Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 NOG p.Trp217Gly VAR_011363 rs104894603
2 NOG p.Cys232Trp VAR_064541 rs387906844

ClinVar genetic disease variations for Multiple Synostoses Syndrome 1:

6
(show top 50) (show all 202)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NOG, TRP205TER undetermined variant Pathogenic
2 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh37 Chromosome 17, 54672233: 54672233
3 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh38 Chromosome 17, 56594872: 56594872
4 NOG NOG, 1-BP DEL deletion Pathogenic
5 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh37 Chromosome 17, 54672199: 54672199
6 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh38 Chromosome 17, 56594838: 56594838
7 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh37 Chromosome 17, 54672280: 54672280
8 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh38 Chromosome 17, 56594919: 56594919
9 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
10 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
11 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
12 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387
13 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh38 Chromosome 20, 35437976: 35437976
14 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh37 Chromosome 20, 34025756: 34025756
15 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh37 Chromosome 20, 34022561: 34022561
16 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh38 Chromosome 20, 35434763: 35434763
17 FGF9 NM_002010.2(FGF9): c.-452A> T single nucleotide variant Uncertain significance rs886050041 GRCh38 Chromosome 13, 21671461: 21671461
18 FGF9 NM_002010.2(FGF9): c.-796C> T single nucleotide variant Likely benign rs549054241 GRCh37 Chromosome 13, 22245256: 22245256
19 FGF9 NM_002010.2(FGF9): c.-796C> T single nucleotide variant Likely benign rs549054241 GRCh38 Chromosome 13, 21671117: 21671117
20 FGF9 NM_002010.2(FGF9): c.-777G> T single nucleotide variant Uncertain significance rs567350418 GRCh37 Chromosome 13, 22245275: 22245275
21 FGF9 NM_002010.2(FGF9): c.-777G> T single nucleotide variant Uncertain significance rs567350418 GRCh38 Chromosome 13, 21671136: 21671136
22 FGF9 NM_002010.2(FGF9): c.-726C> T single nucleotide variant Likely benign rs531745333 GRCh38 Chromosome 13, 21671187: 21671187
23 FGF9 NM_002010.2(FGF9): c.-726C> T single nucleotide variant Likely benign rs531745333 GRCh37 Chromosome 13, 22245326: 22245326
24 FGF9 NM_002010.2(FGF9): c.-452A> T single nucleotide variant Uncertain significance rs886050041 GRCh37 Chromosome 13, 22245600: 22245600
25 FGF9 NM_002010.2(FGF9): c.-429G> A single nucleotide variant Likely benign rs115025644 GRCh37 Chromosome 13, 22245623: 22245623
26 FGF9 NM_002010.2(FGF9): c.-429G> A single nucleotide variant Likely benign rs115025644 GRCh38 Chromosome 13, 21671484: 21671484
27 FGF9 NM_002010.2(FGF9): c.-335delT deletion Uncertain significance rs886050042 GRCh37 Chromosome 13, 22245717: 22245717
28 FGF9 NM_002010.2(FGF9): c.-335delT deletion Uncertain significance rs886050042 GRCh38 Chromosome 13, 21671578: 21671578
29 FGF9 NM_002010.2(FGF9): c.-116dupC duplication Uncertain significance rs886050043 GRCh38 Chromosome 13, 21671797: 21671797
30 FGF9 NM_002010.2(FGF9): c.-116dupC duplication Uncertain significance rs886050043 GRCh37 Chromosome 13, 22245936: 22245936
31 FGF9 NM_002010.2(FGF9): c.283C> G (p.Leu95Val) single nucleotide variant Uncertain significance rs776951218 GRCh38 Chromosome 13, 21681047: 21681047
32 FGF9 NM_002010.2(FGF9): c.283C> G (p.Leu95Val) single nucleotide variant Uncertain significance rs776951218 GRCh37 Chromosome 13, 22255186: 22255186
33 FGF9 NM_002010.2(FGF9): c.*9G> A single nucleotide variant Benign rs9509842 GRCh38 Chromosome 13, 21701444: 21701444
34 FGF9 NM_002010.2(FGF9): c.*9G> A single nucleotide variant Benign rs9509842 GRCh37 Chromosome 13, 22275583: 22275583
35 FGF9 NM_002010.2(FGF9): c.*124C> A single nucleotide variant Uncertain significance rs886050045 GRCh38 Chromosome 13, 21701559: 21701559
36 FGF9 NM_002010.2(FGF9): c.*124C> A single nucleotide variant Uncertain significance rs886050045 GRCh37 Chromosome 13, 22275698: 22275698
37 FGF9 NM_002010.2(FGF9): c.*266G> A single nucleotide variant Uncertain significance rs557670544 GRCh38 Chromosome 13, 21701701: 21701701
38 FGF9 NM_002010.2(FGF9): c.*266G> A single nucleotide variant Uncertain significance rs557670544 GRCh37 Chromosome 13, 22275840: 22275840
39 FGF9 NM_002010.2(FGF9): c.*372A> T single nucleotide variant Benign rs546782 GRCh38 Chromosome 13, 21701807: 21701807
40 FGF9 NM_002010.2(FGF9): c.*372A> T single nucleotide variant Benign rs546782 GRCh37 Chromosome 13, 22275946: 22275946
41 FGF9 NM_002010.2(FGF9): c.*442T> C single nucleotide variant Likely benign rs573811075 GRCh38 Chromosome 13, 21701877: 21701877
42 FGF9 NM_002010.2(FGF9): c.*442T> C single nucleotide variant Likely benign rs573811075 GRCh37 Chromosome 13, 22276016: 22276016
43 FGF9 NM_002010.2(FGF9): c.*516C> A single nucleotide variant Likely benign rs73430215 GRCh37 Chromosome 13, 22276090: 22276090
44 FGF9 NM_002010.2(FGF9): c.*516C> A single nucleotide variant Likely benign rs73430215 GRCh38 Chromosome 13, 21701951: 21701951
45 FGF9 NM_002010.2(FGF9): c.*737G> A single nucleotide variant Uncertain significance rs886050056 GRCh37 Chromosome 13, 22276311: 22276311
46 FGF9 NM_002010.2(FGF9): c.*737G> A single nucleotide variant Uncertain significance rs886050056 GRCh38 Chromosome 13, 21702172: 21702172
47 FGF9 NM_002010.2(FGF9): c.*1360C> T single nucleotide variant Likely benign rs564490885 GRCh37 Chromosome 13, 22276934: 22276934
48 FGF9 NM_002010.2(FGF9): c.*1360C> T single nucleotide variant Likely benign rs564490885 GRCh38 Chromosome 13, 21702795: 21702795
49 FGF9 NM_002010.2(FGF9): c.*1604C> G single nucleotide variant Likely benign rs111765283 GRCh37 Chromosome 13, 22277178: 22277178
50 FGF9 NM_002010.2(FGF9): c.*1604C> G single nucleotide variant Likely benign rs111765283 GRCh38 Chromosome 13, 21703039: 21703039

Expression for Multiple Synostoses Syndrome 1

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 1.

Pathways for Multiple Synostoses Syndrome 1

GO Terms for Multiple Synostoses Syndrome 1

Sources for Multiple Synostoses Syndrome 1

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