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CFSMR
MCID: CRN212
MIFTS: 43
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Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (CFSMR)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:
Characteristics:Orphanet epidemiological data:58
cerebrofaciothoracic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype patients from old order amish community and turkey have been reported onset prenatally or at birth HPO:31
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis |
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Genetics Home Reference :
25
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).
In addition to intellectual disability, individuals with cerebro-facio-thoracic dysplasia have delayed development of speech and movement (motor) skills, and in some, these skills never develop. Nearly one-quarter of affected individuals never learn to speak and almost half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur in some affected infants. People with cerebro-facio-thoracic dysplasia can have behavioral problems, such as anxiety, autism spectrum disorder, or self-injuring behavior; however, many people with the condition are described as friendly and good-natured.
Distinctive facial features common in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); highly arched eyebrows or eyebrows that grow together in the middle (synophrys); widely spaced eyes (hypertelorism); a wide nasal bridge; low-set ears; an upper lip with pronounced curves (Cupid's bow upper lip); and small teeth (microdontia). Some affected individuals have overgrowth of the gums (gingival hyperplasia), an opening in the roof of the mouth (cleft palate), or a split in the upper lip (cleft lip).
Problems with bone development in the torso (thorax) commonly leads to bone abnormalities such as two or more ribs that are joined together (fused) or ribs that are abnormally shaped with two prongs at one end (bifid ribs). Many people with cerebro-facio-thoracic dysplasia have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; some vertebrae may also be fused. Additionally, the shoulder blades can be affected in people with this condition.
A wide variety of other features can occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, digestive problems, or genitourinary problems (such as abnormal kidneys or reproductive organs) can also occur. Affected individuals may also have bone or joint abnormalities in other parts of the body.
MalaCards based summary : Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome, also known as cerebrofaciothoracic dysplasia, is related to congenital fiber-type disproportion and zttk syndrome. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome is TMCO1 (Transmembrane And Coiled-Coil Domains 1). The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are intellectual disability and hypertelorism KEGG : 36 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested. UniProtKB/Swiss-Prot : 73 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.
More information from OMIM:
213980
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Human phenotypes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:58 31 (show top 50) (show all 81)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:213980MGI Mouse Phenotypes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:45
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Drugs for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: musculoskeletal abnormalities |
MalaCards organs/tissues related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:40
Bone,
Eye,
Kidney,
Brain,
Heart,
Skin
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Articles related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:(show all 16)
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Genes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:6
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Search
GEO
for disease gene expression data for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome.
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