CFSMR
MCID: CRN212
MIFTS: 36

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 57 29 13 6
Cerebrofaciothoracic Dysplasia 57 53 75 40 73
Cfsmr 57 75
Dysmorphism, Craniofacial, Skeletal Anomalies, and Mental Retardation Syndrome 40
Craniofacial Dysmorphism, Skeletal Anomalies and Mental Retardation Syndrome 75
Cerebro Facio Thoracic Dysplasia 53
Cerebro-Facio-Thoracic Dysplasia 75
Musculoskeletal Abnormalities 44
Pascual-Castroviejo Syndrome 53
Pascual Castroviejo Syndrome 73
Tmco1 Defect Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 kidney, eye and skin, and related phenotypes are macrocephaly and hypertelorism

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 17)
# 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 diaphragmatic hernia, congenital 9.7
12 rheumatoid arthritis 9.7
13 velocardiofacial syndrome 9.7
14 arthritis 9.7
15 bruck syndrome 9.7
16 juvenile rheumatoid arthritis 9.7
17 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...

Symptoms via clinical synopsis from OMIM:

57
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
gingival hyperplasia
cleft lip (in some patients)
cleft palate (in some patients)

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

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

32 (show top 50) (show all 79)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 frequent (33%) HP:0000256
2 hypertelorism 32 hallmark (90%) HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 hallmark (90%) HP:0000470
5 high palate 32 HP:0000218
6 ptosis 32 occasional (7.5%) HP:0000508
7 intellectual disability 32 hallmark (90%) HP:0001249
8 muscular hypotonia 32 HP:0001252
9 scoliosis 32 occasional (7.5%) HP:0002650
10 inguinal hernia 32 HP:0000023
11 gingival overgrowth 32 HP:0000212
12 pes planus 32 occasional (7.5%) HP:0001763
13 short nose 32 frequent (33%) HP:0003196
14 beaking of vertebral bodies 32 HP:0004568
15 microcephaly 32 occasional (7.5%) HP:0000252
16 thick eyebrow 32 hallmark (90%) HP:0000574
17 neonatal hypotonia 32 HP:0001319
18 coarse hair 32 frequent (33%) HP:0002208
19 short stature 32 frequent (33%) HP:0004322
20 brachycephaly 32 hallmark (90%) HP:0000248
21 cleft palate 32 occasional (7.5%) HP:0000175
22 micrognathia 32 HP:0000347
23 feeding difficulties 32 HP:0011968
24 hernia 32 frequent (33%) HP:0100790
25 strabismus 32 occasional (7.5%) HP:0000486
26 narrow chest 32 hallmark (90%) HP:0000774
27 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
28 epicanthus 32 frequent (33%) HP:0000286
29 absent speech 32 occasional (7.5%) HP:0001344
30 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
31 flat face 32 HP:0012368
32 wide intermamillary distance 32 HP:0006610
33 postnatal growth retardation 32 occasional (7.5%) HP:0008897
34 anxiety 32 occasional (7.5%) HP:0000739
35 low posterior hairline 32 frequent (33%) HP:0002162
36 atrial septal defect 32 HP:0001631
37 sprengel anomaly 32 frequent (33%) HP:0000912
38 ventriculomegaly 32 frequent (33%) HP:0002119
39 cerebral cortical atrophy 32 frequent (33%) HP:0002120
40 motor delay 32 HP:0001270
41 talipes equinovarus 32 occasional (7.5%) HP:0001762
42 wide mouth 32 hallmark (90%) HP:0000154
43 hypoplasia of the maxilla 32 HP:0000327
44 abnormality of the kidney 32 occasional (7.5%) HP:0000077
45 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
46 joint hypermobility 32 occasional (7.5%) HP:0001382
47 downslanted palpebral fissures 32 frequent (33%) HP:0000494
48 upslanted palpebral fissure 32 HP:0000582
49 polyhydramnios 32 frequent (33%) HP:0001561
50 low anterior hairline 32 HP:0000294

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 29 TMCO1

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

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

41
Kidney, Eye, Skin

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 )
2018
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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMCO1 NM_019026.4(TMCO1): c.139_140delAG (p.Arg47Thrfs) deletion Pathogenic rs397518448 GRCh37 Chromosome 1, 165738002: 165738003
2 TMCO1 NM_019026.4(TMCO1): c.139_140delAG (p.Arg47Thrfs) deletion Pathogenic rs397518448 GRCh38 Chromosome 1, 165768765: 165768766
3 TMCO1 NM_019026.4(TMCO1): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs201213306 GRCh37 Chromosome 1, 165721403: 165721403
4 TMCO1 NM_019026.4(TMCO1): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs201213306 GRCh38 Chromosome 1, 165752166: 165752166
5 Pathogenic NC_000007.14: g.62535490A> G single nucleotide variant 483352872 rsRCV000074399 Chromosome 7, 61995868:61995868 88740
6 Pathogenic NC_000007.14: g.62535490A> G single nucleotide variant 483352872 rsRCV000074399 Chromosome 7, 62535490:62535490 88740
7 TMCO1 NM_019026.4(TMCO1): c.240_243delGGTT (p.Val81Thrfs) deletion Pathogenic rs786204789 GRCh37 Chromosome 1, 165737487: 165737490
8 TMCO1 NM_019026.4(TMCO1): c.240_243delGGTT (p.Val81Thrfs) deletion Pathogenic rs786204789 GRCh38 Chromosome 1, 165768250: 165768253
9 TMCO1 NM_019026.4(TMCO1): c.476+3G> C single nucleotide variant Pathogenic rs372701032 GRCh37 Chromosome 1, 165721336: 165721336
10 TMCO1 NM_019026.4(TMCO1): c.476+3G> C single nucleotide variant Pathogenic rs372701032 GRCh38 Chromosome 1, 165752099: 165752099
11 TMCO1 NM_019026.4(TMCO1): c.292_293delAG (p.Ser98Terfs) deletion Pathogenic rs752176040 GRCh37 Chromosome 1, 165737437: 165737438
12 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 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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