Presentation
Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. [orpha.net]
However, this is quite difficult as facial involvement may not be obvious at such an early age, especially in cases with mild phenotypic presentation. [en.wikipedia.org]
Abstract A series of 10 patients with craniofrontonasal dysplasia presenting to the Oxford Craniofacial Unit since 1983 is presented. [ncbi.nlm.nih.gov]
Entire Body System
-
Fishing
This arginine is highly conserved not only among several vertebrate species, ranging from fish to primates, but also among human EFNB members 1–3. [ncbi.nlm.nih.gov]
-
Inflammation
[…] adhesion, migration, and patterning 15 – 18 to regulate many developmental roles, including bone formation, 19, 20 skeletogenesis, 21 neuronal wiring, 22, 23 angiogenesis, 24 and retinocollicular mapping, 25 in addition to disease monitoring such as inflammation [ncbi.nlm.nih.gov]
Musculoskeletal
-
Decrease in Height
[…] body height Small stature [ more ] 0004322 Split nail Longitudinal splitting of nail 0001809 Telecanthus Corners of eye widely separated 0000506 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Umbilical hernia 0001537 Unilateral breast hypoplasia [rarediseases.info.nih.gov]
Ears
-
Ear Deformity
Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent), and nail (100 percent) or other anomalies. [ncbi.nlm.nih.gov]
Eyes
-
Visual Impairment
This group needs regular eye examinations to assess for visual impairment and provide timely intervention for modifiable causes of visual loss. [ncbi.nlm.nih.gov]
Face, Head & Neck
-
Short Neck
neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated: 1/1/2017 Source: GARD (NIH) 1 • • • Back to: « Craniofrontonasal dysplasia [familydiagnosis.com]
neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Split nail Longitudinal splitting of nail 0001809 Telecanthus Corners of eye widely separated 0000506 Toe syndactyly Fused toes Webbed toes [ more [rarediseases.info.nih.gov]
Skeletal deformities may include a short neck, rounded and sloping shoulders, abnormalities involving scapula (Sprengel anomaly) and the clavicle (pseudoarthrosis), broad first toes, short first fingers, brachydactyly, clinodactyly, gaps between the first [mjdrdypu.org]
Neurologic
-
Average Intelligence
In conclusion, individuals diagnosed with frontonasal dysplasia usually are of average intelligence and can expect a normal life span. The affected individual may die shortly after birth if corrective surgery is not performed as soon as possible. [ruralneuropractice.com]
Treatment
There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression. [en.wikipedia.org]
A treatment algorithm for craniofrontonasal dysplasia based on timing and technique is offered to decrease the need for revision and improve outcomes. [ncbi.nlm.nih.gov]
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. [orpha.net]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Prognosis
Prognosis - Craniofrontonasal dysplasia Not supplied. Treatment - Craniofrontonasal dysplasia Not supplied. Resources - Craniofrontonasal dysplasia Not supplied. [checkorphan.org]
However, surgical treatment measures are helpful in correcting certain physical defects In such cases, the prognosis is better and the affected individuals are able to live near normal lives, despite challenges as a result of their condition Additional [dovemed.com]
Bella came into this world with a poor prognosis, and was diagnosed with a rare syndrome called Frontonasal Dysplasia. Bella has undergone some major surgeries since I last wrote about her. [throughthetulips.ca]
Genetic counseling, appropriate treatment and prognosis were explained in detail to the parents but they decided to give consent for do not resuscitate (DNR). Baby died at 36 hours of life. [ruralneuropractice.com]
Yet, all of them are very valuable in determining the prognosis of an individual. In the subheadings below, the most common classifications will be explained. [en.wikipedia.org]
Etiology
(Etiology) The exact cause of Craniofrontonasal Dysplasia, a rare inherited condition, is currently not known. [dovemed.com]
In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and [books.google.es]
Epidemiology
As such there is little information and no consensus in the published literature regarding the epidemiological statistics. The incidence values that were reported ranged from 1:100,000 to 1:120,000. [en.wikipedia.org]
Relevant External Links for EFNB1 Genetic Association Database (GAD) EFNB1 Human Genome Epidemiology (HuGE) Navigator EFNB1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: EFNB1 No data available for Genatlas for EFNB1 Gene A novel mutation [genecards.org]
Craniofrontonasal dysplasia: Epidemiology 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. [maria-online.com]
Prevention
[…] distance in males * Widely spaced eyes Causes - Craniofrontonasal dysplasia Acrofacial dysostosis postaxial, atypical Acrofacial dysostosis, Palagonia type Acrofrontofacionasal dysostosis syndrome Aortic supravalvular stenosis Atelosteogenesis Type III Prevention [checkorphan.org]
Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents prolonged elevated intracranial pressure (ICP). [en.wikipedia.org]
Before corrective surgery, eye drops and ointment are critical to keep the eye moist and prevent blindness if the child is unable to close their eye. [hopkinsallchildrens.org]
This study was funded by an unrestricted grant from Research to Prevent Blindness (RPB), New York, N.Y., and the National Institutes of Health CORE Grant P30 EY008098 to the Eye and Ear Foundation of Pittsburgh, Pa. [ncbi.nlm.nih.gov]