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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The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Hurst and Baraitser confirmed the female preponderance in this condition and noted that all of their patients had thick, craniofrontonsaal hair. From Wikipedia, the free encyclopedia. Cellular interference in craniofrontonasal syndrome: Crajiofrontonasal 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.

Craniofrontonasal dysplasia–a distinct entity with lethality in the male? The mode of inheritance was unclear.

Craniofrontonasal dysplasia – Wikipedia

In addition to the coronal craniosynostosis and facial changes, syndactyly of fingers and toes and longitudinally grooved nails were present.

Frontonasal dysplasia is a heterogeneous disorder. Other characteristics that are less frequently seen are: Blackwell Scientific Publications, Other treatment is symptomatic and supportive.


Headlines is almost entirely funded by donations. Frontonasal dysplasia with coronal craniosynostosis in three sibs. The origin of EFNB1 mutations in craniofrontonasal syndrome: By using this site, you agree to the Terms of Use and Privacy Policy.

In addition, the mother had also previously undergone therapeutic abortion of a female craniofeontonasal with congenital diaphragmatic hernia.

Rare Disease Database

Common physical malformations are: Craniofrontonasal dysostosis with deafness and axillary pterygia. Part 2 e symmetrical median clefts.

Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia. Physical characteristics may play a supportive role in establishing the diagnosis. Comparisons may be useful for a differential diagnosis:. Extracellular ligand disorders X-linked dominant disorders Rare diseases. Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and their dyspoasia in each individual patient, and the timing of diagnosis.

Mutations of ephrin-B1 EFNB1a marker of tissue boundary formation, cause craniofrontonasal syndrome. A novel phenotypic pattern in X-linked inheritance: Ears were thick and low set, and the neck was short without webbing. There have been at least 33 different mutations of the EFNB1 gene identified.

In addition, there was bilateral cryptorchidism. Craniofrontonasal syndrome and diaphragmatic hernia.

Alone we are rare. Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. Craniofrontonasal syndrome predominantly affects the head, face and limbs and presents with a number of typical features which require the child to enter a co-ordinated programme of care involving many different clinical specialities integrating the various expertises.


Oral Surg Med Oral Pathol In the family reported by Kumar et al. 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. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate.

Orphanet: Craniofrontonasal dysplasia

The phenotypically normal mother had normal chromosomes. Males can however have some of the same symptoms as females, but this is not frequently seen. Retrieved from ” https: 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. However, some cases are thought to run in families.

NORD gratefully acknowledges Prof. CFND is a very rare genetic disorder that affects females crainofrontonasal often than males. The condition generally affects females more frequently and more severely than males.

Comparisons may be useful for a differential diagnosis: Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet Orocraniodigital syndrome is thought to be inherited as an autosomal recessive genetic condition.

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