MCID: SHR114
MIFTS: 16

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

Categories: Genetic diseases, Bone 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:

Name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 57 75 29 6
Ssfsc 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability, both inter- and intrafamilial


Classifications:



External Ids:

OMIM 57 617877
MedGen 42 CN807949
MeSH 44 D001848

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

UniProtKB/Swiss-Prot : 75 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, is also known as ssfsc. An important gene associated with Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies is BMP2 (Bone Morphogenetic Protein 2). Affiliated tissues include heart and bone.

OMIM : 57 Patients with SSFSC 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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive

Head And Neck Nose:
short nose
anteverted nares

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

Head And Neck Teeth:
dental crowding
anterior open bite

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

Head And Neck Eyes:
synophrys
downslanting palpebral fissures

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)

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

Growth Height:
short stature

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

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

Respiratory Nasopharynx:
obstructive sleep apnea

Cardiovascular Heart:
transposition of the great arteries
perimembranous ventricular septal defect
paroxysmal supraventricular tachycardia
ebstein anomaly
pulmonary valve stenosis, mild
more
Skeletal:
delayed bone age

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


Clinical features from OMIM:

617877

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

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:

# 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:

41
Heart, Bone

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

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:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP2 NM_001200.3(BMP2): c.79G> T (p.Glu27Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 6770205: 6770205
2 BMP2 NM_001200.3(BMP2): c.79G> T (p.Glu27Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 6750852: 6750852
3 BMP2 NM_001200.3(BMP2): c.949dup (p.Tyr320Valfs) duplication Pathogenic GRCh38 Chromosome 20, 6778847: 6778847
4 BMP2 NM_001200.3(BMP2): c.949dup (p.Tyr320Valfs) duplication Pathogenic GRCh37 Chromosome 20, 6759494: 6759494
5 BMP2 NM_001200.3(BMP2): c.-7-2_-7-1delAGinsCC indel Pathogenic
6 BMP2 NM_001200.3(BMP2): c.987C> A (p.Cys329Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 6759532: 6759532
7 BMP2 NM_001200.3(BMP2): c.987C> A (p.Cys329Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 6778885: 6778885

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.

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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