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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Craniofrontonasal dysplasia craniofrontonasal syndromecraniofrontonasal dysostosisCFND is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene EFNB1.
Common physical malformations are: Physical characteristics may play a supportive role in establishing the diagnosis.
Craniofrontonasal Syndrome | Headlines – The Craniofacial Support Group
The treatment is always surgical and is based on each patients specific phenotypic presentation. Phenotypic expression varies greatly between individuals with CFND.
Some of the more prominent characteristics are: Other characteristics that are less frequently seen are: Females are more commonly and usually more severely affected than males.
Males can however have some of the same symptoms as females, but this is not frequently seen. Paradoxical to other X-linked conditions, with CFND the females are more severely affected than males. This is called a mosaic pattern. As with all X-linked conditions CFND has a preset chance of being passed down from parents to their offspring.
Females have two X-chromosomes and males have one X-chromosome.
This is due to the large heterogeneity between patients regarding phenotypic expression. However, it is important to distinguish this population from CFND for research purposes.
On the other hand, especially in males, it is possible that someone is a carrier of the EFNB1 gene mutation yet does not present with any physical manifestations.
Genetic counseling or prenatal screening may be advised if there is a reason to suspect the presence of an EFNB1 gene mutation. However, this is quite difficult as facial involvement may not be obvious at such an early age, especially in cases with mild phenotypic presentation. This however carries a greater risk of premature termination of the pregnancy.
Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance. Craniofrontonasal dysplasia is a very rare genetic condition. As such there is little information and no consensus in the published literature regarding the epidemiological statistics.
Rare Disease Database
The incidence values that were reported ranged from 1: Dysplasis Wikipedia, the free encyclopedia. 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.
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Dysplaska Mutations of ephrin-B1 EFNB1a marker of tissue boundary formation, cause craniofrontonasal syndrome. Archived from the original PDF on Expanding the phenotype of craniofrontonasal syndrome: Eur J Hum Genet Diverse clinical and genetic aspects of craniofrontonasal syndrome.
Plast Reconstr Surg Mechanisms and functions of Eph and ephrin signalling.
Nat Rev Mol Cell Biol 3: Multiple roles of EPH receptors and ephrins in neural dysplasiia. The normal human female as a mosaic of X-chromosome activity: Dissecting the molecular mechanisms in craniofrontonasal syndrome: Eur J Hum Genet.
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Craniofrontonasal Dysplasia – NORD (National Organization for Rare Disorders)
The origin of EFNB1 mutations in craniofrontonasal syndrome: Additional EFNB1 mutations in craniofrontonasal syndrome. Craniofrontojasal surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 mutations. Long-term results after 40 years experience with treatment of rare facial clefts: Part 2 e symmetrical median clefts. J Plast Reconstr Aesthet Surg 64 Haemophilia A Haemophilia B X-linked sideroblastic anemia.
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