SSFSC2
MCID: SHR126
MIFTS: 24

Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 (SSFSC2)

Categories: Bone diseases, Genetic diseases, Smell/Taste diseases

Aliases & Classifications for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

MalaCards integrated aliases for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

Name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 57 6
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 57 29 6
Ssfsc2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619184
OMIM Phenotypic Series 57 PS617877

Summaries for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

OMIM® : 57 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Cardiac anomalies have been reported in some patients (Lin et al., 2021). For a discussion of genetic heterogeneity of SSFSC, see SSFSC1 (617877). (619184) (Updated 05-Apr-2021)

MalaCards based summary : Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2, also known as short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, is related to short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 and bone disease. An important gene associated with Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 is SCUBE3 (Signal Peptide, CUB Domain And EGF Like Domain Containing 3). Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Diseases in the Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 family:

Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1

Diseases related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 12.2
2 bone disease 9.5 SCUBE3 BMP2

Symptoms & Phenotypes for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
abnormal cervical vertebrae
squared vertebrae
hypoplastic odontoid process (rare)
fusion of cervical vertebrae (rare)

Skeletal Limbs:
joint stiffness
joint hypermobility
rhizomelia
mesomelia
bowed radius
more
Skeletal Skull:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
oropharyngeal dysphagia

Growth Other:
postnatal growth retardation
prenatal growth retardation

Cardiovascular Heart:
atrial septal defect
patent foramen ovale
ventricular extrasystoles with 1st-degree atrioventricular block (rare)

Skeletal Hands:
brachydactyly
shortened metacarpals
shortened phalanges
trapezoid-2nd metacarpal coalition

Skeletal Pelvis:
coxa valga
narrow iliac wings
acetabular dysplasia (rare)

Cardiovascular Vascular:
pulmonary hypertension

Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
eleven pairs of ribs

Head And Neck Eyes:
hypertelorism
hypotelorism
blepharoptosis

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skeletal:
growth delay
delayed bone age

Head And Neck Face:
micrognathia
short chin
long triangular face
high and broad forehead
pointed chin (more apparent at older ages)
more
Head And Neck Teeth:
dental crowding
hypodontia
macrodontia
oligodontia
dental caries
more
Skeletal Feet:
hallux valgus
shortened phalanges
shortened metatarsals
tarsal-metatarsal coalition

Head And Neck Nose:
long nose
high nasal bridge
bulbous tip
large nares

Head And Neck Ears:
hearing loss, conductive
large ears

Head And Neck Mouth:
thick vermilion
cleft palate (uncommon)

Clinical features from OMIM®:

619184 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.1 BMP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.1 BMP2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.1 BMP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.1 SCUBE3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.1 BMP2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.1 BMP2

MGI Mouse Phenotypes related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 BMP2 SCUBE3
2 limbs/digits/tail MP:0005371 8.62 BMP2 SCUBE3

Drugs & Therapeutics for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Search Clinical Trials , NIH Clinical Center for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2

Genetic Tests for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Genetic tests related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

# Genetic test Affiliating Genes
1 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 29 BMP2

Anatomical Context for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

MalaCards organs/tissues related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

40
Bone

Publications for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Articles related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

# Title Authors PMID Year
1
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. 6 57
33308444 2021
2
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. 6
29198724 2017
3
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. 61
32256301 2020

Variations for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

ClinVar genetic disease variations for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP2 NM_001200.4(BMP2):c.953dup (p.Tyr320fs) Duplication Pathogenic 492935 rs1555786145 GRCh37: 20:6759493-6759494
GRCh38: 20:6778846-6778847
2 BMP2 NM_001200.4(BMP2):c.-7-2_-7-1delinsCC Indel Pathogenic 492936 rs1600170070 GRCh37: 20:6750765-6750766
GRCh38: 20:6770118-6770119
3 BMP2 NM_001200.4(BMP2):c.508C>T (p.Arg170Ter) SNV Pathogenic 816934 rs1600173184 GRCh37: 20:6759053-6759053
GRCh38: 20:6778406-6778406
4 SCUBE3 NM_152753.4:c.829_952del Deletion Pathogenic 996761 GRCh37:
GRCh38:
5 SCUBE3 NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr) SNV Pathogenic 981660 GRCh37: 6:35213047-35213047
GRCh38: 6:35245270-35245270
6 SCUBE3 NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp) SNV Pathogenic 981655 GRCh37: 6:35196473-35196473
GRCh38: 6:35228696-35228696
7 SCUBE3 NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter) SNV Pathogenic 981658 GRCh37: 6:35210821-35210821
GRCh38: 6:35243044-35243044
8 SCUBE3 NM_152753.4(SCUBE3):c.2239+1G>A SNV Pathogenic 981659 GRCh37: 6:35211908-35211908
GRCh38: 6:35244131-35244131
9 BMP2 NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) SNV Likely pathogenic 388927 rs1057523275 GRCh37: 20:6759005-6759005
GRCh38: 20:6778358-6778358
10 BMP2 NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) SNV Likely pathogenic 492934 rs1555785715 GRCh37: 20:6750852-6750852
GRCh38: 20:6770205-6770205
11 BMP2 NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) SNV Likely pathogenic 492937 rs1555786156 GRCh37: 20:6759532-6759532
GRCh38: 20:6778885-6778885
12 BMP2 NM_001200.4(BMP2):c.939G>A (p.Trp313Ter) SNV Likely pathogenic 828025 rs1600173481 GRCh37: 20:6759484-6759484
GRCh38: 20:6778837-6778837
13 BMP2 NM_001200.4(BMP2):c.570A>T (p.Arg190Ser) SNV Benign 196322 rs235768 GRCh37: 20:6759115-6759115
GRCh38: 20:6778468-6778468

Expression for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Search GEO for disease gene expression data for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2.

Pathways for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

GO Terms for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

Cellular components related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 SCUBE3 BMP2

Sources for Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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