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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More mildly affected males did not have craniosynostosis but did show hypertelorism, broad great toes, and grooved nails.

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. 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. Summary and related texts. Johnson suggested that some disorders may show up only in heterozygotes as a result of adverse interaction of 2 alleles, neither of which occasions abnormality when homozygous or hemizygous.

Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic ydsplasia functional balance.


Both sons had no major craniofacial features other than telecanthus, but both had congenital diaphragmatic hernia.

For information about clinical trials conducted in Europe, dysplssia Alone we are rare.

In addition, the urinary opening may be misplaced, such as on the underside of the penis hypospadias. Family Weekend The Headlines Family Weekend is our main event, which we host annually and generally runs from Saturday morning to Sunday lunch time. 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, cranoifrontonasal scrotum in 2 of dhsplasia males, 1 of whom had first-degree hypospadias, and mild retardation in 1.


Females are more commonly and usually more severely affected than males. Although most cases were sporadic, 7 familial instances were found.

In addition to the coronal craniosynostosis and facial changes, syndactyly of fingers and toes and longitudinally grooved nails were present. Wieacker P, Wieland I. Sax and Flannery reviewed 8 published pedigrees and added a ninth. We need long-term secure funding to provide you the information that you need at your fingertips. The right thumb was broad and partially bifid at the tip, with a broad, concave, and longitudinally split fingernail; x-ray revealed duplication of the distal phalanx of the thumb.

Other search option s Alphabetical list. They concluded that the segregation does not fit autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive inheritance. Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis.

This is due to the large heterogeneity between patients regarding phenotypic expression.

Rare Disease Database

Craniofrontonasal dysplasia in a three-generation kindred. Views Read Edit View history. Cleft Palate Craniofac J.

The phenotypically normal mother had normal chromosomes. In most cases, GCPS is inherited as an autosomal dominant trait. Craniofrontonasal dysplasia–a distinct entity with lethality in the male? For information about clinical trials sponsored by private sources, contact: Oxford University Press, A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

Kwee and Lindhout reported a 2-year-old boy, born of nonconsanguineous Dutch parents, who exhibited brachycephaly with a broad, prominent forehead, retracted supraorbital ridges, severe ocular hypertelorism, downslanting palpebral fissures, broad nasal bridge, and broad bifid tip of the nose. Am J Hum Genet. Genetic counseling is recommended for affected individuals and their families. This however carries a greater risk of premature termination of the pregnancy.


Craniofrontonasal Syndrome | Headlines – The Craniofacial Support Group

A team approach for infants and children with this disorder may be of benefit and may include special social support and other craniforontonasal services. Languages Deutsch Edit links. Plastic and Reconstructive Surgery.

Comparisons may be useful for a differential diagnosis:.

Males can however have some of the same symptoms as females, but this is not frequently seen. Lippincott, Williams craniofrontonasa, Wilkins, From Wikipedia, the free encyclopedia.

Only comments written in English can be processed. Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis.

There are many other rare craniofacial disorders that are characterized by facial abnormalities similar to those of CFND.

Nat Rev Mol Cell Biol 3: The father displayed hypertelorism and a widow’s peak, and had pectus carinatum that had been crankofrontonasal corrected, whereas the daughter had hypertelorism, bifid nasal tip, widow’s peak, frontal bossing, and a widened metopic suture.

Females have two X-chromosomes and males have one X-chromosome. There were 3 severely affected females, 2 of them daughters of apparently healthy parents. The following disorders may be associated with CFND as secondary characteristics.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. About News Events Contact. CCC ]. 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. These may dywplasia a broad nose and face; a broad and high forehead; cleft lip and palate; craniofrontomasal ears and a webbed neck.