Craniofrontonasal dysplasia is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies. Disease definition. Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry. Learn in-depth information on Craniofrontonasal Dysplasia, its causes, symptoms , diagnosis, complications, treatment, prevention, and.

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Related Disorders Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia. Extracellular ligand disorders X-linked dominant disorders Rare diseases.

The symptoms of CFND vary greatly in number and severity among affected individuals. Haemophilia A Haemophilia B X-linked sideroblastic anemia. Long-term surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 mutations.

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Detailed phenotypic analysis in these families showed that females were more severely affected than males; affected males showed hypertelorism as the only sign, and none had coronal synostosis in contrast to the findings craniofrontonsal their female relatives. One limb may be shorter than the other. Grutzner E, et al.

craniofrontonwsal Specialised Social Services Eurordis directory. Health care resources for this disease Expert centres Diagnostic tests 39 Patient organisations 45 Orphan drug s 0.

Some of the more prominent characteristics are: Common features in boys: Years Published, Both sons had no major craniofacial features other than telecanthus, but both had congenital diaphragmatic hernia. Plastic and Reconstructive Surgery. In most patients, Sprengel deformity appears to occur randomly with no apparent cause sporadic. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without craniogrontonasal written authorization and approval from NORD.


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Surgery may also be used to narrow the nose and reduce neck webbing. Dissecting the molecular mechanisms in craniofrontonasal syndrome: An excess of females Craniofrontonasal syndrome predominantly affects the head, face and limbs xysplasia presents with a number of typical features which require the child to enter a co-ordinated programme of care involving many different clinical specialities integrating the various ctaniofrontonasal.

Am J Med Genet All daughters of affected males are affected, consistent with X-linked inheritance.

Johnson suggested that some disorders may show up dypslasia in heterozygotes as a result of adverse interaction of 2 alleles, neither of which occasions abnormality when homozygous or hemizygous. Females have a more severe form of the disorder.

Craniofrontonasal Syndrome | Headlines – The Craniofacial Support Group

Ears were thick and low set, and the neck was short without webbing. Am J Hum Genet CCC ]. craniofrintonasal

Expanding the phenotype of craniofrontonasal syndrome: Craniofrpntonasal cephalopolysyndactyly syndrome GCPS is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes digits and the head and facial craniofacial area. We need long-term secure funding to provide you the information that you need at your fingertips. The mode of inheritance was unclear. This page was last craniofrlntonasal on 5 Februaryat However, it is important to distinguish this population from CFND for research purposes.


They concluded that the segregation does not fit autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive inheritance.


Clinical and genetic aspects of craniofrontonasal syndrome: In addition, one shoulder may be unusually high due to the failure of the major bone of the shoulder scapula to move into the appropriate position during fetal development Sprengel deformity.

Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently craniofrontonzsal displaying hypertelorism. The condition generally affects females more frequently and more severely than males.

Please click here to find out how you can help. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Craniofrontonasal dysplasia

A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings. The head typically has an unusual shape due to premature closure of the fibrous joints sutures between certain bones in the skull coronal synostosis resulting in facial asymmetry.

Investigational Therapies Information on current dysplasiw trials is posted on the Internet at www. Affected Populations CFND is a very rare genetic disorder that affects females more often than males.