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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For information about clinical trials conducted in Europe, contact: About News Events Contact. CC ]. Craniofrontonasal dysplasia craniofrontonasal syndromecraniofrontonasal dysostosisCFND is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene Dyaplasia.

Aarskog syndrome is inherited as an X-linked recessive genetic condition. In most cases, GCPS is inherited as an autosomal dominant trait. It was first recognised as a distinct condition in by Professor Michael Cohen who worked in Canada.

Craniofrontonasal dysplasia

Nat Rev Mol Cell Biol 3: As with all X-linked conditions CFND has a preset chance of being passed down from parents to craniogrontonasal offspring. Frontonasal dysplasia with coronal craniosynostosis in three sibs. A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. Please click here to find out how you can help.

Craniofrontonasal dysplasia – Wikipedia

Molecular genetic cranlofrontonasal for mutations in the EFNB1 gene is available to confirm the diagnosis. Craniofrontonasal syndrome and diaphragmatic hernia. Plast Reconstr Surg Frontofacionasal dysplasia is inherited as an autosomal recessive genetic condition.


Physical characteristics may play a supportive role in establishing the diagnosis. Extracellular ligand disorders X-linked dominant disorders Rare diseases.

Rare Disease Database

The normal human female as a mosaic of X-chromosome activity: X-linked dominant inheritance works differently depending upon whether the mother left image or father right image is the carrier of a gene that causes a disease or disorder. From Wikipedia, the free encyclopedia. In the family reported by Kumar et al.

Additional EFNB1 mutations in craniofrontonasal syndrome. Some patients have a complete or partial absence of the corpus callosum, the band of nerves that connect the two hemispheres of the brain.

A cleft is an incomplete closure of or a groove on the palate or lips, or both.

However, some cases are thought to run in families. In addition, one shoulder may be unusually high due to the failure of the major bone of cranilfrontonasal shoulder scapula to move into the appropriate position during fetal development Sprengel deformity.


By using this site, you agree to the Terms of Use and Privacy Policy. Johnson suggested that some disorders cranioftontonasal show up only in heterozygotes as a result of adverse interaction of 2 alleles, neither of which occasions abnormality when homozygous or hemizygous. Clinical and genetic aspects of craniofrontonasal syndrome: A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Related Disorders Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia.

OMIM is intended for use primarily by physicians and other professionals concerned craniofrontonaasl genetic disorders, by genetics researchers, and by advanced students in science and medicine. These abnormalities result when the pair of long bones that form the upper jaw maxillae do not fuse properly during the development of the embryo.


Comparisons may be useful for a differential diagnosis: In addition to the coronal craniosynostosis and facial changes, syndactyly of fingers and toes and longitudinally grooved nails were present.

Long-term results after 40 years experience with treatment of rare facial clefts: As such there is little information and no consensus in the published literature regarding the epidemiological statistics. A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings. Possible Genetic Heterogeneity McPherson et al. Alone we are rare. Comparisons may be useful for a differential diagnosis:.

The range and severity of symptoms may vary greatly among affected individuals. Oral Surg Med Oral Pathol Cleft Palate Craniofac J. CCC ]. Long-term surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 mutations. A rudimentary postaxial finger on this hand was surgically removed in infancy, and the nails of several other fingers and toes also showed a median longitudinal split.

The origin of EFNB1 mutations in craniofrontonasal syndrome: