CFSMR
MCID: CRN212
MIFTS: 34

Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (CFSMR)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

MalaCards integrated aliases for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

Name: Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 58 30 13 6
Cerebrofaciothoracic Dysplasia 58 54 76 41 74
Cfsmr 58 76
Dysmorphism, Craniofacial, Skeletal Anomalies, and Mental Retardation Syndrome 41
Craniofacial Dysmorphism, Skeletal Anomalies and Mental Retardation Syndrome 76
Cerebro Facio Thoracic Dysplasia 54
Cerebro-Facio-Thoracic Dysplasia 76
Musculoskeletal Abnormalities 45
Pascual-Castroviejo Syndrome 54
Pascual Castroviejo Syndrome 74
Tmco1 Defect Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
patients from old order amish community and turkey have been reported
onset prenatally or at birth


HPO:

33
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

UniProtKB/Swiss-Prot : 76 Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome: A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.

MalaCards based summary : Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome, also known as cerebrofaciothoracic dysplasia, is related to zttk syndrome and phace syndrome. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include brain, bone and kidney, and related phenotypes are hypertelorism and short neck

Genetics Home Reference : 26 Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).

Description from OMIM: 213980

Related Diseases for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Diseases related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 zttk syndrome 11.8
2 phace syndrome 11.5
3 arthrogryposis, distal, type 7 10.9
4 costello syndrome 10.9
5 wrinkly skin syndrome 10.9
6 mental retardation, x-linked, syndromic, bain type 10.9
7 lowe oculocerebrorenal syndrome 10.9
8 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 10.9
9 49, xxxxx 10.9
10 hypothyroidism 10.2
11 arthritis 9.9
12 juvenile rheumatoid arthritis 9.9
13 diaphragmatic hernia, congenital 9.7
14 rheumatoid arthritis 9.7
15 down syndrome 9.7
16 velocardiofacial syndrome 9.7
17 bruck syndrome 9.7
18 ichthyosis 9.7
19 mucopolysaccharidoses 9.7

Graphical network of the top 20 diseases related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:



Diseases related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome

Symptoms & Phenotypes for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Human phenotypes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

33 (show top 50) (show all 79)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 short neck 33 hallmark (90%) HP:0000470
3 intellectual disability 33 hallmark (90%) HP:0001249
4 thick eyebrow 33 hallmark (90%) HP:0000574
5 brachycephaly 33 hallmark (90%) HP:0000248
6 narrow chest 33 hallmark (90%) HP:0000774
7 wide mouth 33 hallmark (90%) HP:0000154
8 low-set, posteriorly rotated ears 33 hallmark (90%) HP:0000368
9 midface retrusion 33 hallmark (90%) HP:0011800
10 hemivertebrae 33 hallmark (90%) HP:0002937
11 bifid ribs 33 hallmark (90%) HP:0000892
12 rib fusion 33 hallmark (90%) HP:0000902
13 wide nose 33 hallmark (90%) HP:0000445
14 hypoplasia of the corpus callosum 33 hallmark (90%) HP:0002079
15 broad philtrum 33 hallmark (90%) HP:0000289
16 macrocephaly 33 frequent (33%) HP:0000256
17 scoliosis 33 occasional (7.5%) HP:0002650
18 short nose 33 frequent (33%) HP:0003196
19 coarse hair 33 frequent (33%) HP:0002208
20 short stature 33 frequent (33%) HP:0004322
21 hernia 33 frequent (33%) HP:0100790
22 strabismus 33 occasional (7.5%) HP:0000486
23 epicanthus 33 frequent (33%) HP:0000286
24 low posterior hairline 33 frequent (33%) HP:0002162
25 sprengel anomaly 33 frequent (33%) HP:0000912
26 ventriculomegaly 33 frequent (33%) HP:0002119
27 cerebral cortical atrophy 33 frequent (33%) HP:0002120
28 downslanted palpebral fissures 33 frequent (33%) HP:0000494
29 polyhydramnios 33 frequent (33%) HP:0001561
30 synophrys 33 frequent (33%) HP:0000664
31 cerebellar vermis hypoplasia 33 frequent (33%) HP:0001320
32 ptosis 33 occasional (7.5%) HP:0000508
33 pes planus 33 occasional (7.5%) HP:0001763
34 microcephaly 33 occasional (7.5%) HP:0000252
35 cleft palate 33 occasional (7.5%) HP:0000175
36 patent ductus arteriosus 33 occasional (7.5%) HP:0001643
37 absent speech 33 occasional (7.5%) HP:0001344
38 attention deficit hyperactivity disorder 33 occasional (7.5%) HP:0007018
39 postnatal growth retardation 33 occasional (7.5%) HP:0008897
40 anxiety 33 occasional (7.5%) HP:0000739
41 talipes equinovarus 33 occasional (7.5%) HP:0001762
42 abnormality of the kidney 33 occasional (7.5%) HP:0000077
43 joint hypermobility 33 occasional (7.5%) HP:0001382
44 craniosynostosis 33 occasional (7.5%) HP:0001363
45 decreased fetal movement 33 occasional (7.5%) HP:0001558
46 cleft upper lip 33 occasional (7.5%) HP:0000204
47 growth hormone deficiency 33 occasional (7.5%) HP:0000824
48 self-mutilation 33 occasional (7.5%) HP:0000742
49 overlapping toe 33 occasional (7.5%) HP:0001845
50 bull's eye maculopathy 33 occasional (7.5%) HP:0011504

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
brachycephaly
microcephaly (rare)

Head And Neck Neck:
short neck
low posterior hairline

Head And Neck Nose:
short nose
wide ala nasi
hypoplastic ala nasi

Head And Neck Face:
micrognathia
flat face
narrow forehead
low hairline
frontal upsweep (in some patients)

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

Head And Neck Mouth:
high-arched palate
cleft lip (in some patients)
cleft palate (in some patients)
gingival hyperplasia

Abdomen Gastrointestinal:
poor feeding

Cardiovascular Heart:
atrial septal defect (rare)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Growth Weight:
birthweight > 90th percentile (in some patients)

Head And Neck Teeth:
primary dentition delay
microdontia of primary teeth

Skeletal Hands:
long hyperextensible fingers (in some patients)

Prenatal Manifestations Movement:
decreased fetal movement (in some patients)

Head And Neck Eyes:
hypertelorism
long eyelashes
synophrys
high-arched eyebrows
epicanthal folds (in some patients)
more
Skeletal Feet:
pes planus
talipes equinovarus (in some patients)

Neurologic Central Nervous System:
neonatal hypotonia
motor delay
mental retardation
speech defect
nonverbal (in some patients)
more
Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
long eyelashes
synophrys
high-arched eyebrows
more
Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
fused ribs
elevated scapulae

Chest Breasts:
widely spaced nipples

Skeletal Spine:
scoliosis (in some patients)
vertebral segmentation defects (in some patients)

Skeletal Skull:
craniosynostosis (rare)

Chest External Features:
narrow chest (in some patients)

Growth Other:
postnatal growth retardation (some patients)

Genitourinary Kidneys:
renal anomalies (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in some patients)
affable demeanor (in some patients)
attention deficit (in some patients)
self mutilation (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Clinical features from OMIM:

213980

Drugs & Therapeutics for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Search Clinical Trials , NIH Clinical Center for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome

Cochrane evidence based reviews: musculoskeletal abnormalities

Genetic Tests for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Genetic tests related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 30 TMCO1

Anatomical Context for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

MalaCards organs/tissues related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

42
Brain, Bone, Kidney, Eye

Publications for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Articles related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

# Title Authors Year
1
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant. ( 30556256 )
2019
2
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. ( 24194475 )
2014
3
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation. ( 23598465 )
2013
4
Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia. ( 17128568 )
2006
5
Ophthalmologic findings in cerebrofaciothoracic dysplasia. ( 15724898 )
2005
6
Cerebrofaciothoracic dysplasia: a new family. ( 1640432 )
1992

Variations for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

ClinVar genetic disease variations for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMCO1 NM_019026.4(TMCO1): c.240_243delGGTT (p.Val81Thrfs) deletion Pathogenic rs786204789 GRCh37 Chromosome 1, 165737487: 165737490
2 TMCO1 NM_019026.4(TMCO1): c.240_243delGGTT (p.Val81Thrfs) deletion Pathogenic rs786204789 GRCh38 Chromosome 1, 165768250: 165768253
3 TMCO1 NM_019026.4(TMCO1): c.476+3G> C single nucleotide variant Pathogenic rs372701032 GRCh37 Chromosome 1, 165721336: 165721336
4 TMCO1 NM_019026.4(TMCO1): c.476+3G> C single nucleotide variant Pathogenic rs372701032 GRCh38 Chromosome 1, 165752099: 165752099
5 TMCO1 NM_019026.4(TMCO1): c.139_140delAG (p.Arg47Thrfs) deletion Pathogenic rs397518448 GRCh37 Chromosome 1, 165738002: 165738003
6 TMCO1 NM_019026.4(TMCO1): c.139_140delAG (p.Arg47Thrfs) deletion Pathogenic rs397518448 GRCh38 Chromosome 1, 165768765: 165768766
7 TMCO1 NM_019026.4(TMCO1): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs201213306 GRCh37 Chromosome 1, 165721403: 165721403
8 TMCO1 NM_019026.4(TMCO1): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs201213306 GRCh38 Chromosome 1, 165752166: 165752166
9 TMCO1 NM_019026.4(TMCO1): c.292_293delAG (p.Ser98Terfs) deletion Pathogenic rs752176040 GRCh37 Chromosome 1, 165737437: 165737438
10 TMCO1 NM_019026.4(TMCO1): c.292_293delAG (p.Ser98Terfs) deletion Pathogenic rs752176040 GRCh38 Chromosome 1, 165768200: 165768201

Expression for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Search GEO for disease gene expression data for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome.

Pathways for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

GO Terms for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

Sources for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....