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]

Common features in boys: (all features may not be present in every instance) wide spaced eyes; and very rarely the remainder of the features listed above for girls. [headlines.org.uk]

Generally, this disease presents an improper characteristic of an X - linked disorder and affects more women than men. Most men are affected mild form (only hipertelorismo). [ivami.com]

• 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]

• Sloping Shoulders

  shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Finger syndactyly 0006101 Hand polydactyly Extra finger 0001161 High palate [rarediseases.info.nih.gov]

  Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders Finger syndactyly Frontal bossing Hand polydactyly Hemihypotrophy of lower limb [familydiagnosis.com]

  shoulders (sometimes associated with restricted movement); and in a small number of cases, mild learning difficulties, cleft lip, cleft palate and extra thumbs or big toes. [headlines.org.uk]

  Extracranial features include sloping shoulders with dysplastic clavicles, asymmetry of the thoracic skeleton and pectoral muscle, unilateral breast hypoplasia, longitudinally grooved fingernails, mild cutaneous syndactyly, and umbilical and diaphragmatic [genedx.com]

• Suggestibility

  The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. [ncbi.nlm.nih.gov]

  We suggest that this individual does have the CFND mutation, but has an extremely mild phenotype that is not detectable with clinical examination. [unboundmedicine.com]

  Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression in females, and minimal to no expression in males. [kjp.or.kr]

• 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]

• 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. [ncbi.nlm.nih.gov]

• 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]

• Headache

  The patient’s initial symptoms included frequent headaches, history of obstructive sleep apnea, and abnormal head shape. [ncbi.nlm.nih.gov]

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]

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 treatment provided mainly depends on the malformations observed in the child. [dovemed.com]

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 - 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]

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15;143A(24):3069-78. doi: 10.1002/ajmg.a.31963. Citation on PubMed [medlineplus.gov]

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. [ncbi.nlm.nih.gov]

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]

(Etiology) The exact cause of Craniofrontonasal Dysplasia, a rare inherited condition, is currently not known. [dovemed.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

[…] 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]

MORE: World Health Day 2016: Symptoms and signs of diabetes and how to prevent the disease Brianne was also born with a severe cleft lip and problems with her pallet that left a large hole beneath her nose. [metro.co.uk]

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]

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]