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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NORD gratefully acknowledges Prof. Craniofrontonasal dysplasia CFND is a very rare inherited disorder characterized by body — especially facial – asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities.
In addition, the head may have an unusual shape due to premature closure of the fibrous joints sutures between certain bones in the skull coronal synostosis. The symptoms of CFND vary greatly in number and severity among affected individuals. Craniofrontoonasal head typically has an unusual shape due to premature closure of the fibrous joints sutures between certain craniofrontonasak in the skull coronal synostosis resulting in facial asymmetry.
Some affected individuals may have additional abnormalities of the head and facial craniofacial area. These may include a broad nose and craniofrintonasal a broad craniofrontonadal high forehead; cleft lip and palate; low-set ears and a webbed neck. Females usually have thick, wiry and curly hair that appears at months of age.
Other physical characteristics sometimes associated with CFND may include narrow sloping shoulders. One limb may be shorter than the other.
Underdevelopment of one breast is craniofrontonassl seen in females. 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.
For more information on Sprengel deformity, see the Related Disorders section of this report. Females may have a uterus anomaly that may cause an increased incidence of miscarriages. Several reports have linked CFND to Poland syndrome which is a condition in which there is an absence of chest wall muscles on one side of the body and abnormally short, webbed fingers on the hand on the same side.
Some patients have a complete or partial absence of the corpus callosum, the band of nerves that connect the two hemispheres of the brain.
In addition, the urinary opening may be misplaced, such as on the underside of the penis craniofrontpnasal. It is possible that a male may show no symptoms but be a carrier of the gene mutation for CFND.
There have been at least 33 different mutations of the EFNB1 gene identified. All daughters of affected males are affected, consistent with X-linked inheritance. CFND is a very rare genetic disorder that affects females more often than males. Females have a more severe form of the disorder.
OMIM Entry – # – CRANIOFRONTONASAL SYNDROME; CFNS
Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia. Comparisons may be useful for a differential diagnosis:. 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 craniofrontlnasal abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.
Aarskog syndrome is inherited as an X-linked recessive genetic cranioforntonasal. Frontofacionasal dysplasia is inherited as an autosomal recessive genetic condition. Greig cephalopolysyndactyly syndrome GCPS is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes digits and the head and facial craniofacial area. The range and severity of symptoms may vary greatly among affected individuals.
In most cases, GCPS is inherited as an autosomal dominant trait. Frontonasal dysplasia is a heterogeneous disorder. However, some cases are thought to run in families. Orocraniodigital syndrome is thought to be inherited as an autosomal recessive genetic condition.
There are many other rare craniofacial disorders that are characterized by facial abnormalities similar to those of CFND. The following disorders may be associated with CFND as secondary characteristics.
They are not necessary for a differential diagnosis:. In most patients, Sprengel deformity appears to occur randomly with no apparent cause sporadic.
Craniofrontonasal Syndrome | Headlines – The Craniofacial Support Group
Rarely, the disorder may be inherited as an autosomal dominant genetic condition. A cleft is an incomplete closure of or a groove on the palate or lips, or both. These abnormalities result when the pair of long bones that form the upper jaw maxillae do not fuse properly during the development of the embryo. A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings.
Molecular genetic testing for mutations in the EFNB1 gene is available to confirm the diagnosis. CFND can sometimes be detected before birth prenatally by ultrasound.
Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis. Surgery may be performed to correct craniofacial deformities and malformations of the hands and feet. Surgery may also be used to narrow the nose and reduce neck webbing.
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A team approach for infants and children with this disorder may be of benefit and may include special social support and other medical services. Other treatment is symptomatic and supportive.
Information on current clinical trials is dysplasi on the Internet at www. All studies receiving U. For information about clinical trials sponsored by private sources, contact: For information about clinical trials conducted in Europe, contact: Lippincott, Williams and Wilkins, Oxford University Press, The Birth Defects Encyclopedia. Blackwell Scientific Publications, Plastic and Reconstructive Surgery.
Wieacker P, Wieland I. Clinical and genetic aspects of craniofrontonasal syndrome: Molecular Genetics and Metabolism. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. crankofrontonasal
Am J Hum Genet. Am J Med Genet Grutzner E, et al. Oral Surg Med Oral Pathol The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. About News Events Contact. General Discussion Craniofrontonasal dysplasia CFND is a very rare inherited disorder characterized by body — especially facial – asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities.
Affected Populations CFND is a very rare genetic disorder that affects females more often than males. Related Disorders Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia. Comparisons may be useful for a differential diagnosis: They are not necessary for a differential diagnosis: Diagnosis A diagnosis of CFND may be suspected after a thorough clinical evaluation and characteristic physical findings.
Standard Therapies Treatment Treatment of CFND depends upon the specific malformations and their severity in each individual patient, and the timing of diagnosis. Genetic counseling is recommended for affected individuals and their families.
Investigational Therapies Information on current clinical trials is posted on the Internet at www. Years Published, Alone we are rare. Together we are strong.