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Craniofrontonasal Dysplasia
CFNS
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]
- Abstract A series of 10 patients with craniofrontonasal dysplasia presenting to the Oxford Craniofacial Unit since 1983 is presented.[ncbi.nlm.nih.gov]
- 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]
- In place of the typical craniosynostosis found in CFND, she presented with a superiorly displaced nasion and an anomalously positioned frontonasal suture. This report reveals an unreported malformation in CFND and its surgical implications.[ncbi.nlm.nih.gov]
- A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.[ncbi.nlm.nih.gov]
Entire Body System
Broad Thumb
- Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.[ncbi.nlm.nih.gov]
- thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).[orpha.net]
Jaw & Teeth
High Arched Palate
- Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles.[ncbi.nlm.nih.gov]
- arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails,[orpha.net]
- In addition, individuals with craniofrontonasal dysplasia linked to X may have facial abnormalities including microcephaly, facial asymmetry, palpebral fissures, dry hair and extremely curly, back line of low hair, wide neck, high arched palate, cleft[ivami.com]
- arched palate, orbital dystopia, low implant of the breasts with asymmetric nipples and volume, webbed neck, hand or foot abnormalities such as clinodactyly (most common is a curved 5th finger) and cutaneous syndactyly (webbed fingers / toes).Females[en.wikipedia.org]
Receding Chin
- Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles.[ncbi.nlm.nih.gov]
Musculoskeletal
Small Head
- head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Oral cleft Cleft of the mouth 0000202 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Sandal gap Gap between 1st and 2nd[rarediseases.info.nih.gov]
Eyes
Esotropia
- 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]
- Diagnosis - Craniofrontonasal dysplasia * Broad nose * Esotropia * Telechantus * Highly arched palate * Cleft lip * Cleft palate * Clavicle pseudoarthrosis * Short fifth finger * Broad fingers * Long fingers * Short stature * Scoliosis * Neck abnormalities[checkorphan.org]
Skin
Eruptions
- Because of this, correction in later patients was delayed until after eruption of permanent maxillary incisors. The mean anterior interorbital distance was reduced in patients from 184 percent to 98 percent of sex-matched controls.[ncbi.nlm.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]
Large Ears
- B, Side profile of the boy showing large ears, mandibular prognathia, midface hypoplasia, and, together with the left-hand panel, scaphocephaly.[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]
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]
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]
Papilledema
- Fundus examination was negative for papilledema, but revealed bilateral mild exocyclotorsion of the fundi. The patient also exhibited hyperopia with astigmatism in both eyes.[ncbi.nlm.nih.gov]
Treatment
- 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]
- There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression.[en.wikipedia.org]
- At 10 months after birth when she visited our hospital, signs of craniostenosis were not recognized and cosmetic improvement was considered the main purpose of the treatment.[ncbi.nlm.nih.gov]
- 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]
- 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]
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]
Sex distribution
Age distribution
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]