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SSMS
MCID: SZR028
MIFTS: 36

Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (SSMS)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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MalaCards integrated aliases for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

Name: Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 57 72
Seizures, Scoliosis, and Macrocephaly Syndrome 57 29 6 39
Seizures-Scoliosis-Macrocephaly Syndrome 58 72
Ssms 57 72
Ssm Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable age at onset of seizures


HPO:

31
seizures, scoliosis, and macrocephaly/microcephaly syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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Summaries for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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OMIM® : 57 Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019). (616682) (Updated 20-May-2021)

MalaCards based summary : Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, is also known as seizures, scoliosis, and macrocephaly syndrome. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). The drugs Sufentanil and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are global developmental delay and delayed speech and language development

UniProtKB/Swiss-Prot : 72 Seizures, scoliosis, and macrocephaly/microcephaly syndrome: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.

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Related Diseases for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Symptoms & Phenotypes for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Human phenotypes related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
4 seizure 31 hallmark (90%) HP:0001250
5 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
6 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
10 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
13 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
14 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
15 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
16 abnormality of the kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000077
17 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
18 abnormality of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000951
19 abnormality of the outer ear 58 31 frequent (33%) Frequent (79-30%) HP:0000356
20 overlapping toe 58 31 frequent (33%) Frequent (79-30%) HP:0001845
21 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
22 hypotonia 31 frequent (33%) HP:0001252
23 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
24 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
25 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
26 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
27 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
28 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
29 exostoses 58 31 occasional (7.5%) Occasional (29-5%) HP:0100777
30 flat forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0004425
31 patent ductus arteriosus 31 very rare (1%) HP:0001643
32 seizures 58 Very frequent (99-80%)
33 muscular hypotonia 58 Frequent (79-30%)
34 coarse facial features 31 HP:0000280
35 pes planus 31 HP:0001763
36 stereotypy 31 HP:0000733
37 strabismus 31 HP:0000486
38 motor delay 31 HP:0001270
39 clinodactyly of the 5th finger 31 HP:0004209
40 preauricular skin tag 31 HP:0000384
41 ventricular septal defect 31 HP:0001629
42 nail dysplasia 31 HP:0002164
43 sparse hair 31 HP:0008070
44 feeding difficulties 31 HP:0011968
45 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
46 autistic behavior 31 HP:0000729
47 generalized hypotonia 31 HP:0001290
48 unsteady gait 31 HP:0002317
49 poor speech 31 HP:0002465
50 hypoplastic philtrum 31 HP:0005326

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
microcephaly

Skeletal Spine:
scoliosis

Head And Neck Eyes:
hypertelorism
strabismus

Skin Nails Hair Hair:
sparse hair

Skeletal Feet:
flat feet
overlapping toes

Head And Neck Face:
coarse facies
long hypoplastic philtrum

Head And Neck Ears:
preauricular tags

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
stereotypic behavior
obsessive behavior

Head And Neck Mouth:
gingival hypertrophy

Skeletal:
decreased bone density (in most patients)
exostosis (in some patients)

Laboratory Abnormalities:
decreased heparan sulfate levels in blood and urine

Neurologic Central Nervous System:
seizures
unsteady gait
delayed psychomotor development
impaired intellectual development
poor or absent speech
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding
bowel malrotation (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
fifth finger clinodactyly

Skin Nails Hair Nails:
dysplastic nails

Cardiovascular Heart:
ventricular septal defect (in some patients)
patent ductus arteriosus (in some patients)

Head And Neck Nose:
bulbous nasal tip

Genitourinary Kidneys:
hemolytic-uremic syndrome requiring dialysis (1 patient)

Skin Nails Hair Skin:
sensitive skin

Clinical features from OMIM®:

616682 (Updated 20-May-2021)

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Drugs & Therapeutics for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Drugs for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sufentanil Approved, Investigational Phase 1 56030-54-7 41693
2 Narcotics Phase 1
3 Anesthetics Phase 1
4 Anesthetics, General Phase 1
5 Anesthetics, Intravenous Phase 1
6 Analgesics, Opioid Phase 1
7 Analgesics Phase 1
8
Pancrelipase Approved, Investigational 53608-75-6
9 Liver Extracts
10 Hypoglycemic Agents
11 insulin
12 pancreatin
13 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetics of Sufentanil Sublingual Microtablet 30 mcg and 15 mcg in Healthy Subjects Completed NCT02082236 Phase 1 Treatment Arm A: Sufenta®;Treatment B: Sufentanil SSM 30 mcg;Treatment C: SSM 15 mcg;Treatment D: SSM 30 mcg
2 SKINI - Prospective Evaluation of the Radicality of Breast Tissue Removal With Skin-Sparing and Nipple-Sparing Mastectomy (SSM or NSM) Completed NCT03470909
3 Feasibility and Performances of Spleen Stiffness Measurement as Surrogate Marker for Oesophageal Varices in Cirrhotic Patients. Completed NCT02180113
4 Feasibility Study of Closed Loop Control in Type 1 Diabetes Using Heart Rate Monitoring as an Exercise Marker Completed NCT01582139
5 Radiofrequency Ablation Using a Separable Clustered Electrode for the Treatment of Hepatocellular Carcinomas: A Randomized Controlled Trial of a Dual-Switching Monopolar Mode Versus a Single-Switching Monopolar Mode Completed NCT03699657
6 Nonverbal Communication in Aged People With and Without Neurodegenerative Disease: Study of Sensorimotor Synchronization to Music Recruiting NCT04146688
7 Same-Day Discharge After Nipple-sparing Mastectomy or Skin-sparing Mastectomy With Breast Reconstruction Recruiting NCT04596683
8 Examining and Comparing Patient Satisfaction and Long-term Cosmetic Results Achieved With Implant-based Breast Reconstruction Surgery With Submuscular Silicone Implant After Skin Sparing / Areola Sparing / Nipple Sparing Mastectomy and Contralateral Symmetrization (With Mastopexy and/or Silicone Implant and/or Ultrapro Mesh) With Unilateral Simple Mastectomies and With Bilateral Skin-sparing Mastectomies and Implant-based Immediate Breast Reconstructions. Response-adaptive Prospective Randomized, Comparative Clinical Trial Recruiting NCT04356235
9 Virtual Health Education vs Meditation in Irreversible Age-Related Vision Loss Patients and Their Caregivers: A Pilot Randomized Controlled Trial Not yet recruiting NCT04583748

Search NIH Clinical Center for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Genetic Tests for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Genetic tests related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

# Genetic test Affiliating Genes
1 Seizures, Scoliosis, and Macrocephaly Syndrome 29 EXT2
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Anatomical Context for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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MalaCards organs/tissues related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

40
Skin, Breast, Bone, Spleen, Kidney, Liver, Brain
Sources

Publications for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Articles related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

(show top 50) (show all 290)
# Title Authors PMID Year
1
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. 57 6
30997052 2019
2
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 6 57
30288735 2019
3
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 6 57
26246518 2015
4
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). 57
30075207 2019
5
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 6
19344451 2009
6
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 6
9326317 1997
7
One-step in-situ fabrication of carbon nanotube/stainless steel mesh membrane with excellent anti-fouling properties for effective gravity-driven filtration of oil-in-water emulsions. 61
33647565 2021
8
Fusing crash data and surrogate safety measures for safety assessment: Development of a structural equation model with conditional autoregressive spatial effect and random parameters. 61
33508696 2021
9
Improving inference for nonlinear state-space models of animal population dynamics given biased sequential life stage data. 61
32243577 2021
10
Structural variants at the BRCA1/2 loci are a common source of homologous repair deficiency in high grade serous ovarian carcinoma. 61
33741650 2021
11
Regularized multi-structural shape modeling of the knee complex based on deep functional maps. 61
33756303 2021
12
Inversion of Circular Dichroism Signals in Chiral Polythiophene Films Induced by End-On-Oriented Surface-Segregated Monolayers. 61
33539070 2021
13
The morphological variation of acetabular defects in revision total hip arthroplasty-A statistical shape modeling approach. 61
33491799 2021
14
Statistical shape model-based planning organ-at-risk volume: application to pancreatic cancer patients. 61
33227722 2021
15
Motor development in infancy and spine shape in early old age: Findings from a British birth cohort study. 61
32162719 2020
16
Fuzzy Surrogate Safety Metrics for real-time assessment of rear-end collision risk. A study based on empirical observations. 61
33032008 2020
17
Metagenomic Information Recovery from Human Stool Samples Is Influenced by Sequencing Depth and Profiling Method. 61
33233349 2020
18
Ultrafast separation of oil/water mixtures with layered double hydroxide coated stainless steel meshes (LDH-SSMs). 61
32473327 2020
19
Defining the Prognostic Role of MicroRNAs in Cutaneous Melanoma. 61
32275975 2020
20
Evaluating the efficacy of primary excision and closure for the management of lip leukoderma and introducing the surgical site morbidity score as an effective tool for assessment of postoperative morbidity. 61
32915489 2020
21
Superlyophilic Shape Memory Porous Sponge for Smart Liquid Permeation. 61
32970408 2020
22
A model of dynamic, within-trial conflict resolution for decision making. 61
32212764 2020
23
Integration of cortical thickness data in a statistical shape model of the scapula. 61
32364819 2020
24
Morphological analysis of Gissane's angle utilising a statistical shape model of the calcaneus. 61
32785762 2020
25
Subregional statistical shape modelling identifies lesser trochanter size as a possible risk factor for radiographic hip osteoarthritis, a cross-sectional analysis from the Osteoporotic Fractures in Men Study. 61
32387760 2020
26
The morphology of the human mandible: A computational modelling study. 61
30826909 2020
27
Sphingomyelins and ent-Sphingomyelins Form Homophilic Nano-Subdomains within Liquid Ordered Domains. 61
32710823 2020
28
Endoscopic endonasal approach for suprasellar meningiomas: introduction of a new scoring system to predict extent of resection and assist in case selection with long-term outcome data. 61
32707549 2020
29
Spinal pain relief procedures with the assistance of the MRI-updated statistical shape model. 61
31995264 2020
30
Differentiation of suprasellar meningiomas from non-functioning pituitary macroadenomas by 18F-FDG and 13N-Ammonia PET/CT. 61
32552842 2020
31
Investigating the Effects of Demographics on Shoulder Morphology and Density Using Statistical Shape and Density Modeling. 61
32601709 2020
32
Management problems and strategies: The vulnerability of small-sized municipalities. 61
32402043 2020
33
Workload Differentiates Breast Surgical Procedures: NSM Associated with Higher Workload Demand than SSM. 61
31916090 2020
34
A Generic Approach to Lung Field Segmentation From Chest Radiographs Using Deep Space and Shape Learning. 61
31425015 2020
35
Predicting real-time traffic conflicts using deep learning. 61
31931409 2020
36
Measuring the horizontal and vertical growth rates of superficial spreading melanoma: a pilot study with sequential digital dermoscopy. 61
32129054 2020
37
Intrinsic Measures and Shape Analysis of the Intratemporal Facial Nerve. 61
31917770 2020
38
Decomposing Simon task BOLD activation using a drift-diffusion model framework. 61
32127617 2020
39
Reconstruction of the lower limb bones from digitised anatomical landmarks using statistical shape modelling. 61
32092603 2020
40
Clinical relevance of augmented statistical shape model of the scapula in the glenoid region. 61
31902570 2020
41
Predicting Knee Joint Instability Using a Tibio-Femoral Statistical Shape Model. 61
32363179 2020
42
Hierarchical self-assembly of a PS-b-P4VP/PS-b-PNIPAM mixture into multicompartment micelles and their response to two-dimensional confinement. 61
31848533 2020
43
Suicide among persons who entered same-sex and opposite-sex marriage in Denmark and Sweden, 1989-2016: a binational, register-based cohort study. 61
31722984 2020
44
"I'll Just Pick It Up…": Women's Acceptability of Self-Sampling Methods for Sexually Transmitted Infection Screening. 61
31688722 2019
45
Medial axis segmentation of cranial nerves using shape statistics-aware discrete deformable models. 61
31236805 2019
46
A novel robust kernel principal component analysis for nonlinear statistical shape modeling from erroneous data. 61
31550670 2019
47
PPR-SSM: personalized PageRank and semantic similarity measures for entity linking. 61
31664891 2019
48
Comparative anti-thrombotic activity and haemorrhagic adverse effect of nattokinase and tissue-type plasminogen activator. 61
31695953 2019
49
Differences between pure desmoplastic melanoma and superficial spreading melanoma in terms of survival, distribution and other clinicopathologic features. 61
31237040 2019
50
Dual-target hazard perception: Could identifying one hazard hinder a driver's capacity to find a second? 61
31319363 2019
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Variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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ClinVar genetic disease variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT2 NM_000401.3(EXT2):c.359T>G (p.Met120Arg) SNV Pathogenic 218894 rs140075817 GRCh37: 11:44129522-44129522
GRCh38: 11:44107972-44107972
2 EXT2 NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) SNV Pathogenic 2472 rs121918279 GRCh37: 11:44129776-44129776
GRCh38: 11:44108226-44108226
3 EXT2 NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) SNV Pathogenic 580003 rs772690312 GRCh37: 11:44219466-44219466
GRCh38: 11:44197916-44197916
4 EXT2 NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) SNV Pathogenic 2474 rs121918280 GRCh37: 11:44135787-44135787
GRCh38: 11:44114237-44114237
5 EXT2 NM_000401.3(EXT2):c.1922A>G (p.Tyr641Cys) SNV Pathogenic 638619 rs1590667793 GRCh37: 11:44255681-44255681
GRCh38: 11:44234131-44234131
6 EXT2 NM_207122.2(EXT2):c.1173G>A (p.Gln391=) SNV Likely pathogenic 816885 rs1457613214 GRCh37: 11:44151688-44151688
GRCh38: 11:44130138-44130138
7 EXT2 NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) SNV Likely pathogenic 304572 rs527624522 GRCh37: 11:44129273-44129273
GRCh38: 11:44107723-44107723
8 EXT2 NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) SNV Uncertain significance 788070 rs200613371 GRCh37: 11:44129644-44129644
GRCh38: 11:44108094-44108094
9 EXT2 NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) SNV Uncertain significance 134205 rs138722406 GRCh37: 11:44255774-44255774
GRCh38: 11:44234224-44234224
10 EXT2 NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) SNV Uncertain significance 547989 rs371996957 GRCh37: 11:44148445-44148445
GRCh38: 11:44126895-44126895
11 EXT2 NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) SNV Uncertain significance 134215 rs141035971 GRCh37: 11:44148448-44148448
GRCh38: 11:44126898-44126898
12 EXT2 NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) SNV Uncertain significance 134218 rs138187791 GRCh37: 11:44193165-44193165
GRCh38: 11:44171615-44171615
13 EXT2 NM_000401.3(EXT2):c.670A>G (p.Met224Val) SNV Uncertain significance 638379 rs1324170921 GRCh37: 11:44130778-44130778
GRCh38: 11:44109228-44109228

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 EXT2 p.Met87Arg VAR_076469 rs140075817
2 EXT2 p.Arg95Cys VAR_076470 rs376292686

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Expression for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Search GEO for disease gene expression data for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome.
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Pathways for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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GO Terms for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

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Sources for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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