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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Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Diverse clinical and genetic aspects of craniofrontonasal syndrome. Headlines is almost entirely funded by donations. There have been at least 33 different mutations of the EFNB1 gene identified.

Some of the more prominent characteristics are: Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: Females have a more severe form of the disorder. A rudimentary postaxial finger on this hand was surgically removed in infancy, and the nails of several other fingers and toes also showed a median longitudinal split.

Part 2 e symmetrical median clefts. Alternative names are Craniofrontonasal Dysplasia and Craniofrontonasal Dysostosis. As such there is little information and no consensus in the published literature regarding the epidemiological statistics.

Please consider making a donation now and again in the future. All daughters of affected males were affected, a finding consistent with X-linked dominant inheritance. Craniofrontonasal syndrome and diaphragmatic hernia. Physical characteristics may play a supportive role in establishing the diagnosis. Grutzner E, et al. The father displayed hypertelorism and a widow’s peak, and had pectus carinatum that had been surgically corrected, whereas the daughter had hypertelorism, bifid nasal tip, widow’s peak, frontal bossing, and a widened metopic suture.


The condition generally affects females more frequently and more severely than males.

We need long-term secure funding to provide you the information that you need at your fingertips. Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild dyspkasia disability.

Radiocephalometric findings in a family with craniofrontonasal dysplasia. Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance. Sax and Flannery reviewed 8 published pedigrees and added a ninth. Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis.

Craniofrontonasal dysplasia – Wikipedia

CCC ]. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

However, some cases are thought to run in families. Unfortunately, it is not free to produce.

Phenotypic expression varies greatly between individuals with CFND. Mutations of ephrin-B1 EFNB1a marker of tissue boundary formation, cause craniofrontonasal syndrome. Cohen identified CFNS as a subgroup of frontonasal dysplasia.

Common features in boys: Some affected individuals may have additional abnormalities of the head and facial craniofacial area. A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings.


Please click here for more information. The symptoms of CFND vary greatly in number and severity among affected individuals. Other physical characteristics sometimes associated with CFND may include narrow sloping shoulders.

Expanding the phenotype of craniofrontonasal syndrome: Genetic counseling is recommended for affected individuals and their families. Males can however have some of the same symptoms as females, but this is not frequently seen. One son of an affected female was considered to be affected because of hypertelorism with an inner canthal distance greater than the 97th centile at 9 years of age. There are many other rare craniofacial disorders that are characterized by facial abnormalities similar to those of CFND.


The Birth Defects Encyclopedia. However, this is quite difficult as facial involvement may not be obvious at such an early age, especially in cases with mild phenotypic presentation. Although most cases were sporadic, 7 familial instances were found.

Eur J Hum Genet.

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails:

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