To complement the Annual Clinical Focus on medical genomics, AFP is publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the type of care they might require in the future. This review discusses Prader-Willi syndrome.
Congenital cataract, facial dimorphism and neuropathy Congenital cataracts, neuropathy and facial dysmorphism - Gen CTDP1. Congenital cataract, facial dysmorphia and neuropathy CCFDN is a rare common disorder that affects various parts of the body. It is characterized by congenital cataracts and other ocular abnormalities, as microphthalmia and nystagmus.
Genetic Disorders. General intellectual functioning is expressed by IQ. Typically, in children younger than 5 years old who present delays in the attainment of developmental milestones at the expected age, the term of "developmental delay" is used. Also, developmental delay is used before the age of 5,when IQ testing is reliable and valid and it takes into consideration learning and adaptive deficits which predict later intellectual disability.
By Andy Coghlan. Doctors faced with the tricky task of spotting rare genetic diseases in children may soon be asking parents to email their family photos. A computer program can now learn to identify rare conditions by analysing a face from an ordinary digital photograph.
New microdeletion and microduplication syndromes: a comprehensive review. Send correspondence to. Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability IDmultiple congenital anomalies MCAautistic spectrum disorders ASD and other phenotypic findings.
Ptosis, strabismus, epicanthal folds, and upslanting lid fissures are often present but there is considerable variation among individuals. Blepharophimosis, telecanthus, and various refractive errors have also been reported. There is great variability in the clinical signs among patients.
Start using Face2Gene. FDNA is developing technology that has the potential to help so many physicians and families by bringing them closer to a diagnosis- there are literally millions of individuals with unusual features around the world that lack a diagnosis and therefore lack information on natural history, recurrence risk and prevention of known complications. FDNA's idea of incorporating several dysmorphology resources OMIM, GeneReviewssupported by their visual analytic technology, will be able to improve researching of genetic syndromes - all within a single mobile app. Having an archive of cases easily accessible from my mobile device anytime and anywhere is a long-time unmet need.
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disordergenetic syndromeor birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature.
FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature summary by Pachlopnik Schmid et al. Pachlopnik Schmid et al. Three additional family members displayed 2 or 3 of these 4 features.