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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Greig 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.

Craniofrontonasal dysplasia

The documents contained in this web site are presented for information purposes only. The skull tends to be short from front to back referred to descriptively as Brachycephaly coronal sutures.

They concluded that the segregation does not fit autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive inheritance. In most patients, Sprengel deformity appears to occur randomly with no apparent cause sporadic.


Only comments written in English can be processed. Although most cases were sporadic, 7 familial instances were found. Investigational Therapies Information crahiofrontonasal current clinical trials is posted on the Internet at www. Molecular genetic testing for mutations in the EFNB1 gene is available to confirm the diagnosis.


Nat Rev Mol Cell Biol 3: Plast Reconstr Surg Cleft Palate Craniofac J.

In females, findings included severe hypertelorism with extremely broad nasal root and severe craniofacial asymmetry, including orbital asymmetry probably craniofrontonasap by unicoronal synostosis. Additional EFNB1 mutations in craniofrontonasal syndrome.

However, it is important to distinguish this population from CFND for research purposes.

Am J Hum Genet. Craniofrontonasal dysplasia is a very rare genetic condition. Craniofrontonasa condition generally affects females more frequently and more severely than males.

Cleft lip and palate were present in 1, Sprengel anomaly in 2, pseudarthrosis of the clavicle in 2, pectus excavatum in 3, diaphragmatic hernia in 2, broad first toe in 4, longitudinal grooves of the nails in 5, shawl scrotum in 2 of 3 males, 1 of whom had first-degree hypospadias, and mild retardation in 1.

Craniofrontonasal Syndrome | Headlines – The Craniofacial Support Group

Two male relatives, including the father of the 2 affected daughters, had orbital hypertelorism and other minor anomalies. They are not necessary for a differential diagnosis:. The paternal grandmother did not have hypertelorism, but had a dysplastic left fifth toe and a reported ‘chest deformity’ that was not examined. Phenotypic expression varies greatly between individuals with CFND. The mothers both had classic features of CFNS.


Hunter syndrome Purine—pyrimidine metabolism: Plastic and Reconstructive Surgery. Females have a more severe form of the disorder. This however carries a greater risk of premature termination of the pregnancy.

Rare Disease Database

Clinical and genetic aspects of craniofrontonasal syndrome: There have been at least 33 different mutations of the EFNB1 gene identified. There are many other rare craniofacial disorders that are characterized by facial abnormalities similar to those of CFND.

Genetic dypslasia is recommended for affected individuals and their families. Females usually have thick, wiry and curly hair that appears at months of age.

Some patients have a complete or partial absence craniofrontonaaal the corpus callosum, the band of nerves that connect the two hemispheres of the brain. A second cousin of the proband also had unilateral duplication of the distal phalanx with concave fingernails and hypoplastic toenails, but no other anomalies. In the family reported by Kumar et al.

The Birth Defects Encyclopedia.