SSFSC1
MCID: SHR125
MIFTS: 22

Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 (SSFSC1)

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 1:

Name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 57 6
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 72
Ssfsc1 57
Ssfsc 72

Characteristics:

OMIM®:

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

Miscellaneous:
phenotypic variability, both inter- and intrafamilial


HPO:

31
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 72 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies: An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract.

MalaCards based summary : Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1, 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 2. An important gene associated with Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 is BMP2 (Bone Morphogenetic Protein 2). Affiliated tissues include bone, and related phenotypes are toenail dysplasia and infantile muscular hypotonia

OMIM® : 57 Patients with SSFSC1 have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017). (617877) (Updated 05-Apr-2021)

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 1 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 2 10.9

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

Human phenotypes related to Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 toenail dysplasia 31 very rare (1%) HP:0100797
2 infantile muscular hypotonia 31 very rare (1%) HP:0008947
3 high palate 31 HP:0000218
4 delayed skeletal maturation 31 HP:0002750
5 short nose 31 HP:0003196
6 anteverted nares 31 HP:0000463
7 short stature 31 HP:0004322
8 everted lower lip vermilion 31 HP:0000232
9 low-set ears 31 HP:0000369
10 short 5th metacarpal 31 HP:0010047
11 pectus excavatum 31 HP:0000767
12 short toe 31 HP:0001831
13 dental crowding 31 HP:0000678
14 downslanted palpebral fissures 31 HP:0000494
15 spondylolisthesis 31 HP:0003302
16 conductive hearing impairment 31 HP:0000405
17 sandal gap 31 HP:0001852
18 clinodactyly of the 5th finger 31 HP:0004209
19 thin upper lip vermilion 31 HP:0000219
20 long philtrum 31 HP:0000343
21 broad forehead 31 HP:0000337
22 pulmonic stenosis 31 HP:0001642
23 spina bifida occulta 31 HP:0003298
24 midface retrusion 31 HP:0011800
25 synophrys 31 HP:0000664
26 transposition of the great arteries 31 HP:0001669
27 prominent sternum 31 HP:0000884
28 posteriorly rotated ears 31 HP:0000358
29 obstructive sleep apnea 31 HP:0002870
30 11 pairs of ribs 31 HP:0000878
31 pierre-robin sequence 31 HP:0000201
32 narrow forehead 31 HP:0000341
33 perimembranous ventricular septal defect 31 HP:0011682
34 anterior open-bite malocclusion 31 HP:0009102
35 paroxysmal supraventricular tachycardia 31 HP:0004763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
short nose
anteverted nares

Head And Neck Mouth:
everted lower lip vermilion
pierre-robin sequence
thin upper lip
high-arched palate
submucous cleft

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
prominent sternum
11 pairs of ribs

Skeletal Feet:
sandal gap
short toes
fusion of middle and distal phalanges in multiple toes
cone-shaped metaphyses of phalanges

Skeletal Spine:
spina bifida occulta
spondylolisthesis, l5/s1
sagittal cleft, t4 or t5

Cardiovascular Heart:
transposition of the great arteries
perimembranous ventricular septal defect
paroxysmal supraventricular tachycardia
ebstein anomaly
pulmonary valve stenosis, mild
more
Skeletal Hands:
fifth finger clinodactyly
short fifth metacarpal
short fifth proximal phalanges
accessory ossification center at base of second metacarpal
narrow midsection of distal phalanges
more
Respiratory Airways:
airway malacia (rare)

Neurologic Central Nervous System:
hypotonia in infancy (in some patients)

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive

Head And Neck Teeth:
dental crowding
anterior open bite

Head And Neck Face:
long philtrum
broad forehead
midface hypoplasia
bitemporal narrowing

Head And Neck Eyes:
synophrys
downslanting palpebral fissures

Respiratory Nasopharynx:
obstructive sleep apnea

Skeletal:
delayed bone age

Skin Nails Hair Nails:
dysplastic toenails (in some patients)

Clinical features from OMIM®:

617877 (Updated 05-Apr-2021)

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 1

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

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 1:

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 1:

# Title Authors PMID Year
1
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. 6 57
29198724 2017
2
Simultaneous measurement of total acid content and soluble salt-free solids content in Chinese vinegar using near-infrared spectroscopy. 61
22250960 2012

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 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP2 NM_001200.4(BMP2):c.508C>T (p.Arg170Ter) SNV Pathogenic 816934 rs1600173184 GRCh37: 20:6759053-6759053
GRCh38: 20:6778406-6778406
2 BMP2 NM_001200.4(BMP2):c.953dup (p.Tyr320fs) Duplication Pathogenic 492935 rs1555786145 GRCh37: 20:6759493-6759494
GRCh38: 20:6778846-6778847
3 BMP2 NM_001200.4(BMP2):c.-7-2_-7-1delinsCC Indel Pathogenic 492936 rs1600170070 GRCh37: 20:6750765-6750766
GRCh38: 20:6770118-6770119
4 BMP2 NM_001200.4(BMP2):c.939G>A (p.Trp313Ter) SNV Likely pathogenic 828025 rs1600173481 GRCh37: 20:6759484-6759484
GRCh38: 20:6778837-6778837
5 BMP2 NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) SNV Likely pathogenic 388927 rs1057523275 GRCh37: 20:6759005-6759005
GRCh38: 20:6778358-6778358
6 BMP2 NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) SNV Likely pathogenic 492934 rs1555785715 GRCh37: 20:6750852-6750852
GRCh38: 20:6770205-6770205
7 BMP2 NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) SNV Likely pathogenic 492937 rs1555786156 GRCh37: 20:6759532-6759532
GRCh38: 20:6778885-6778885
8 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 1.

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

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

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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