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CS
MCID: CRZ001
MIFTS: 68
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Crouzon Syndrome (CS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Crouzon Syndrome:
Characteristics:Orphanet epidemiological data:58
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Smell/Taste diseases Oral diseases
ICD10:
32
33
Orphanet: 58
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.
MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to exophthalmos and fgfr-related craniosynostosis syndromes, and has symptoms including seizures and frequent headaches. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Clavulanate and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include Bone, eye and heart, and related phenotypes are frontal bossing and abnormal facial shape Disease Ontology : 12 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. NIH Rare Diseases : 52 Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis ). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. Other features may include dental problems, hearing loss , and/or cleft lip and palate . The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes (mutations ) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development. OMIM : 56 Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). (123500) KEGG : 36 Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans. UniProtKB/Swiss-Prot : 73 Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. Wikipedia : 74 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more... |
Human phenotypes related to Crouzon Syndrome:58 31 (show all 49)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:123500UMLS symptoms related to Crouzon Syndrome:seizures, frequent headaches MGI Mouse Phenotypes related to Crouzon Syndrome:45 (show all 23)
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Drugs for Crouzon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: craniofacial dysostosis |
Genetic tests related to Crouzon Syndrome:
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MalaCards organs/tissues related to Crouzon Syndrome:40
Bone,
Eye,
Heart,
Skin,
Prostate,
Lung,
Thyroid
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
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Articles related to Crouzon Syndrome:(show top 50) (show all 543)
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Genes related to Crouzon Syndrome (4 elite genes):(show all 36) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Crouzon Syndrome:6 (show top 50) (show all 102)
UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:73 (show all 36)
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Search
GEO
for disease gene expression data for Crouzon Syndrome.
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Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 60)
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Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 83)
Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:
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