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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The range and severity of symptoms may vary greatly among affected individuals.

This however carries a greater risk of premature termination of the pregnancy. Am J Hum Genet. Sax and Flannery reviewed 8 published pedigrees and added a ninth. Clinical and genetic aspects of craniofrontonasal syndrome: Such a situation does not occur in hemizygous carrier males, who are mildly affected. Females have craniorrontonasal X-chromosomes and males have one X-chromosome.

Am J Hum Genet Am J Med Genet CC HPO: Only comments written in English can be processed. Surgery may be performed to correct dyspkasia deformities and malformations of the hands and feet.

Females have a more severe form of the disorder.

Haemophilia A Haemophilia B X-linked sideroblastic anemia. Alport craniogrontonasal Dent’s disease X-linked nephrogenic diabetes insipidus.

Both sons had no major craniofacial features other than telecanthus, but both had congenital diaphragmatic hernia. Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis.

Craniofrontonasal dysplasia – Wikipedia

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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 prior written authorization and approval from NORD. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. For all other comments, please send your remarks via contact us.

Orphanet: Craniofrontonasal dysplasia

More mildly affected males did not have craniosynostosis but did show hypertelorism, broad great toes, and dysplsia nails. For more information on Sprengel deformity, see the Related Disorders section of this report.

A second cousin of the proband also had unilateral duplication of the distal phalanx with concave fingernails and hypoplastic toenails, but no other anomalies. Other physical characteristics sometimes associated with CFND may include narrow sloping shoulders. Common physical malformations are: Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and craniofrkntonasal severity in each individual patient, and the timing of diagnosis.

Comparisons may be useful for a differential diagnosis: All daughters of affected males are affected, consistent with X-linked inheritance.

Clinical Synopsis Toggle Dropdown. Please click here to find out how you can help. Craniofrontonasal dysplasia–a distinct entity with lethality in the male?

Rare Disease Database

Multiple roles of EPH receptors and ephrins in neural development. Eur J Hum Genet. Hurst and Baraitser confirmed the female preponderance in this condition and noted that all of their patients had thick, wiry hair. Frontofacionasal dysplasia is inherited as an autosomal recessive genetic condition. Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. Craniofrontonasal syndrome predominantly affects the head, face and limbs and 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 expertises.


Long-term results after 40 years experience with treatment of rare facial clefts: Frontonasal dysplasia is a heterogeneous disorder. Affected Populations CFND is a very rare genetic disorder that affects females more often than males. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.

The documents contained in this web site are presented for information purposes only. In addition, the mother had axillary pterygia, congenital footplate fixation of the left ear, right sensorineural hearing loss, and limited forearm pronation. 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.

Very often the condition is not diagnosed in males unless they are a member of a family known to have the condition or the father of a daughter with the condition. Please click here for more information. Craniofrontonasal syndrome and diaphragmatic hernia. Views Read Edit View history. There have been at least 33 different mutations of the EFNB1 gene identified.

Eur J Hum Genet