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: Summary and related texts. CC HPO: Clinical and genetic aspects of craniofrontonasal syndrome: Oral Surg Med Oral Pathol Please click here to find out how you can help. In addition, there was bilateral cryptorchidism.

Grutzner E, et al. Some patients have a complete or partial absence of the corpus callosum, the band of nerves that connect the two hemispheres of the brain. In most patients, Sprengel deformity appears eysplasia occur randomly with no apparent cause sporadic.

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Rare Disease Database

Phenotypic expression varies dyysplasia between individuals with CFND. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Craniofrontonasal dysplasia in a girl with del X p The documents contained in this web site are presented for information purposes only.


The mouth was tent-shaped, with a pseudocleft-like philtrum of the upper lip and high-arched palate. Paradoxical to other X-linked conditions, with CFND the females are more severely affected than males.

Orphanet: Craniofrontonasal dysplasia

As with all X-linked conditions CFND has a preset chance of being passed down from parents to their offspring. Am J Hum Genet Dissecting the molecular mechanisms in craniofrontonasal syndrome: Am J Med Genet In most cases, Cfaniofrontonasal is inherited as an autosomal dominant trait. In addition, the mother had axillary pterygia, congenital footplate fixation of the left ear, right sensorineural hearing loss, and limited forearm pronation.

Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis. CFND can sometimes be detected before birth prenatally by ultrasound. The symptoms of CFND vary greatly in number and severity among affected individuals. They reported an affected mother and daughter who also had limited hip and shoulder abduction.


Craniofrontonasal Dysplasia – NORD (National Organization for Rare Disorders)

It is possible that a male may show no symptoms but be a carrier of the gene mutation for CFND. Dissecting the molecular mechanisms in craniofrontonasal syndrome: The mothers both had classic features of CFNS. The following disorders may be associated with CFND as secondary characteristics.

Views Read Edit View history. A second cousin of the proband also had unilateral duplication of the distal phalanx with concave fingernails and hypoplastic toenails, but no other anomalies.

Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis. Craniofronhonasal 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.

Alone we are rare.