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.

Author: Kajimuro Gardaran
Country: China
Language: English (Spanish)
Genre: Finance
Published (Last): 13 December 2006
Pages: 368
PDF File Size: 13.80 Mb
ePub File Size: 16.45 Mb
ISBN: 113-2-43400-242-2
Downloads: 34772
Price: Free* [*Free Regsitration Required]
Uploader: Goltirr

The Headlines Family Weekend is our main event, which we host annually and generally runs from Saturday morning to Sunday lunch time. Detailed phenotypic analysis in these families showed that females were more severely affected than males; affected males showed hypertelorism as the only sign, and none had coronal synostosis in contrast to the findings in their female relatives.

NORD gratefully acknowledges Prof. Both sons had no major craniofacial features other than telecanthus, but both had congenital diaphragmatic hernia. We are determined to keep this website freely accessible. These results supported cellular interference as being the cause of the more severe phenotype in CFNS females. Expert curators review the literature and organize it to facilitate your work.

All 6 patients had documented coronal craniosynostosis and exhibited severe hypertelorism; other features included agenesis of the corpus callosum, bifid nasal tip, longitudinally split nails, cryptorchidism, and mild learning disability.

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. Long-term surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 mutations. Related Disorders Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia.


A cleft is an incomplete closure of or a groove on the palate or lips, or both. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Clinical Synopsis Toggle Dropdown. However, this is quite difficult as facial involvement may not be obvious at such an early age, especially in cases with sysplasia phenotypic presentation.

Some affected individuals may have additional abnormalities of the head and facial craniofacial area. Mutations of ephrin-B1 EFNB1a marker of tissue boundary formation, cause craniofrontonasal syndrome. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance.

Dysplasiaa of the following disorders can be similar to those of craniofrontonasal dysplasia. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: Possible Genetic Heterogeneity McPherson et al. Craniofrontonasal syndrome and diaphragmatic hernia. Males can however have some of the same symptoms as females, but this is not frequently seen.


All daughters of affected males were affected, a finding consistent with X-linked dominant inheritance. Craniofrontonasal dysplasia craniofrontonasal syndromecraniofrontonasal dysostosisCFND is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene EFNB1.

The treatment is always surgical and is based on each patients specific phenotypic presentation. By using this site, you agree to the Terms of Use and Privacy Policy.

Molecular Genetics and Metabolism. Views Read Edit View history. Diagnosis A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings. The range and severity of symptoms may vary greatly among affected individuals.


Rare Disease Database

Other search option s Alphabetical craniofrrontonasal. General Discussion Craniofrontonasal dysplasia CFND is a very rare inherited disorder characterized by body — especially facial – asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities.

Dysplasiia reported an affected mother and daughter who also had limited hip and shoulder abduction. This however carries a greater risk of premature termination of the pregnancy. In females, findings included severe hypertelorism with extremely broad nasal root and severe craniofacial asymmetry, including orbital asymmetry probably caused by unicoronal synostosis. The origin of EFNB1 mutations in craniofrontonasal syndrome: Expanding the phenotype of craniofrontonasal syndrome: The Birth Defects Encyclopedia.

We need long-term secure funding to craniofrontonwsal you the information that you need at your fingertips.

Underdevelopment of one breast is sometimes seen in females. A team approach for infants and children with this disorder may be of benefit and may include special social support and other medical services. Retrieved from ” https: Specialised Social Services Eurordis directory. Alone we are rare.

There have been at least 33 different mutations of the EFNB1 gene identified.

Orphanet: Craniofrontonasal dysplasia

Extracellular ligand disorders X-linked dyslpasia disorders Rare diseases. Hunter syndrome Purine—pyrimidine metabolism: Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 1. However, some cases are thought to run in families.