Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CFSMR MCID: CRN212 MIFTS: 36	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (CFSMR) Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 213980

MedGen ⁴² C1859252

MeSH ⁴⁴ D008607 D009139 D019465

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 44513007 more

UMLS ⁷³ C1859252 C2931168

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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

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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
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:

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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

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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

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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

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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

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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 )	Michael Yates T...Johnson DS	2018
2	TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. ( 24194475 )	Alanay Y....Akarsu N.A.	2014
3	An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation. ( 23598465 )	Cortesi A...Orrico A	2013
4	Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia. ( 17128568 )	Kanaka-Gantenbein C...Mastorakos G	2006
5	Ophthalmologic findings in cerebrofaciothoracic dysplasia. ( 15724898 )	Bouzas EA...Mastorakos G	2005
6	Cerebrofaciothoracic dysplasia: a new family. ( 1640432 )	Philip N...Giraud F	1992

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

Genes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMCO1	Transmembrane And Coiled-Coil Domains 1	Protein Coding	1028.88	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20018682 23320496 17351359 (more) 24194475
2	PAX3	Paired Box 3	Protein Coding	19.53	Novoseek inferred ⁵⁵	18553554
3	TMCO1-AS1	TMCO1 Antisense RNA 1	RNA Gene	8.6	GeneCards inferred via : Variants (show sections)

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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

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

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

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

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Clinical features from OMIM:

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

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

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:

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

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

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

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

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

Genes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (1 elite genes):

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

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

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

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...