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CCMS
MCID: CRB154
MIFTS: 37
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Cerebrocostomandibular Syndrome (CCMS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebrocostomandibular Syndrome:
Characteristics:Orphanet epidemiological data:60
cerebrocostomandibular syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
forty percent of patients die in the first year de novo mutation (in most patients) HPO:33
cerebrocostomandibular syndrome:
Clinical modifier death in infancy Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Mental diseases
ICD10:
35
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NIH Rare Diseases
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54
Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening. Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected person.
MalaCards based summary : Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformations and cavernous malformation. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include kidney, bone and skin, and related phenotypes are cleft palate and micrognathia OMIM : 58 Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome. (117650) UniProtKB/Swiss-Prot : 76 Cerebrocostomandibular syndrome: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation. |
Human phenotypes related to Cerebrocostomandibular Syndrome:60 33 (show top 50) (show all 57)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:117650 |
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Cochrane evidence based reviews: micrognathism |
MalaCards organs/tissues related to Cerebrocostomandibular Syndrome:42
Kidney,
Bone,
Skin,
Heart,
Tongue
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Articles related to Cerebrocostomandibular Syndrome:(show top 50) (show all 55)
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Genes/enhancers related to Cerebrocostomandibular Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cerebrocostomandibular Syndrome:76
ClinVar genetic disease variations for Cerebrocostomandibular Syndrome:6
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Search
GEO
for disease gene expression data for Cerebrocostomandibular Syndrome.
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Pathways related to Cerebrocostomandibular Syndrome according to KEGG:38
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