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Legius Syndrome
NFLS
Human male karyotpe high resolution - Chromosome 15 cropped
Presentation
- Legius syndrome presents as a mild neurofibromatosis type 1 (NF1) phenotype. Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling.[ncbi.nlm.nih.gov]
- The present review aims to provide an overview of these 'NF1‑like' inherited diseases and recommend a cost‑effective strategy for making a clear diagnosis among these diseases with an ambiguous borderline.[ncbi.nlm.nih.gov]
- Clinical description The clinical presentation of Legius syndrome is very similar to that of NF1.[orpha.net]
- Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome.[ncbi.nlm.nih.gov]
- Characteristic features are depigmented patches of skin and hair (as presented in Fig. 1 ).[doi.org]
Cardiovascular
Mitral Valve Prolapse
- Examples of other findings reported in isolated or only a few individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal[ncbi.nlm.nih.gov]
Skin
Cafe-Au-Lait Spots
- CASE REPORT: We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov]
- On assessment he was noted to have multiple cafe-au-lait spots 5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. The rest of his clinical examination was unremarkable.[pediatricneurology.conferenceseries.com]
- Background Information for Legius Syndrome ( SPRED1) Sequencing Characteristics: Cafe au lait spots, axillary and inguinal freckling, learning disability and macrocephaly. Neurofibromas, lisch nodules and CNS tumors are not observed.[ltd.aruplab.com]
- Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene.[en.wikipedia.org]
Axillary Freckling
- Consider the possibility of Legius syndrome, which can be confirmed by molecular genetic analysis, in patients with six or more café au lait macules and axillary freckling but none of the other classic features of NF1, urged Dr.[mdedge.com]
- Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.[medical-dictionary.thefreedictionary.com]
- NF6 was ruled out by the presence of axillary freckling. NF-6 is characterized by only multiple CALMs.[ijpd.in]
- Abstract Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas.[ncbi.nlm.nih.gov]
Hypopigmented Macule
- Other less common manifestations include short stature, macrocephaly, Noonan-like facies, pectus excavatum/carinatum, lipomas, hypopigmented macules, vascular lesions, learning disabilities, attention deficit/hyperactivity disorder (ADHD), and developmental[orpha.net]
Keratosis
- .), cardiac abnormalities (pulmonary stenosis, septal defects, hypertrophic cardiomyopathy, valvular abnormalities), skin abnormalities (xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, eczema, hemangiomas, café au lait spots, erythema, etc.),[admerahealth.com]
- […] cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis[rasopathiesnet.org]
- Previously, clinical discrimination between these three syndromes was predominantly based on respective characteristic features, including hyperkeratotic skin, ichthyosis and keratosis pilaris in CFC patients; and soft and loose skin, deep palmar/plantar[doi.org]
Face, Head & Neck
Short Neck
- Other features shared between the two conditions include short stature, intellectual disability, lax joints, and head/neck features such as a highly arched palate, a short neck, a large forehead, and low-set ears.[forgottendiseases.org]
- .), short neck, cardiac abnormalities [50%-80%, pulmonary valve stenosis (20%-50%), hypertrophic cardiomyopathy (HCM) (20%-30%) and other structural defects], developmental abnormalities, a variable degree of intellectual disability (25%), thoracic abnormalities[admerahealth.com]
- neck Pectus deformity Cryptorchidism NA NA NA NA NA Skin changesKeratosis Nevi/lentigines Caf-au-lait spots Short stature2 SD 2 SD 1 SD 1 SD Croonen et al.[docslide.com.br]
Neurologic
Dystonia
- C MT-ND5 Leigh Disease m.13513G A MT-ND5 Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome m.13514A G MT-ND5 Leigh Disease/MELAS m.14459G A MT-ND6 LDYT/Leigh Disease m.14482C G MT-ND6 LHON m.14484T C MT-ND6 LHON m.14487T C MT-ND6 Dystonia/Leigh Disease[ambrygen.com]
- The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more.[books.google.com]
- […] few individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal atrial tachycardia, tubular colonic adenoma, progressive dystonia[ncbi.nlm.nih.gov]
Language Delays
- Of the six individuals with developmental abnormalities described by Messiaen et al [2009] , all had speech and/or language delays as the primary or only delay.[ncbi.nlm.nih.gov]
Workup
X-Ray
Nephrolithiasis
- Examples of other findings reported in isolated or only a few individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal[ncbi.nlm.nih.gov]
Treatment
- Management and treatment Drug therapy should be considered for the behavioral manifestations of the disorder (ADHD).[orpha.net]
- Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]
- Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
- 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]
- This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of[books.google.com]
Prognosis
- Prognosis Given the current knowledge of disease manifestations and complications, the prognosis for patients with Legius syndrome is considered to be very good. The documents contained in this web site are presented for information purposes only.[orpha.net]
- Prognosis Given the current knowledge of disease manifestations and complications, the prognosis for patients with Legius syndrome is considered to be very good. Last updated: 7/2/2014[rarediseases.info.nih.gov]
Etiology
- Etiology Legius syndrome is caused by heterozygous inactivating mutations in the SPRED1 gene (15q14), involved in regulation of the RAS-MAPK signal transduction pathway. Nearly 100 different mutations in this gene have been identified.[orpha.net]
Epidemiology
- Summary Epidemiology The prevalence of Legius syndrome is not known. Fewer than 200 cases have been reported to date. Prevalence may be higher than expected due to misdiagnosis of cases as neurofibromatosis type 1 (NF1, see this term).[orpha.net]
- Epidemiology The prevalence of Legius syndrome is not known. Fewer than 200 cases have been reported to date. Prevalence may be higher than expected due to misdiagnosis of cases as neurofibromatosis type 1 (NF1, see this term).[rarediseases.info.nih.gov]
Sex distribution
Age distribution
Pathophysiology
- This novel mechanism for the regulation of neurofibromin provides a molecular bridge for understanding the overlapping pathophysiology of NF1 and Legius syndrome.[ncbi.nlm.nih.gov]
- Besta' Neurological Institute Milan, Milan, Italy. , Department of Pathophysiology and Transplantation, Pediatric Highly Intensive Care Unit, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. ,[unboundmedicine.com]
- Author information 1 Department of Pathophysiology and Transplantation, Pediatric Highly Intensive Care Unit, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. 2 Developmental Neurology IRCCS Foundation[ncbi.nlm.nih.gov]
- Report of three cases and review of pathophysiology and management considerations". Medicine . 64 (3): 192-202. doi : 10.1097/00005792-198505000-00004 . ISSN 0025-7974 . PMID 3921802 . Davies, Bh; Tuddenham, Eg (April 1976).[popflock.com]
Prevention
- […] of Secondary Complications Age-appropriate developmental assessment and neuropsychiatric evaluations could potentially result in the initiation of therapies to prevent developmental and behavioral complications.[ncbi.nlm.nih.gov]
- Phacoemulsification may help prevent intraoperative and postoperative bleeding in patients with the syndrome.[popflock.com]
- In South Africa the Promotion of Equality and Prevention of Unfair Discrimination Act 2000 has numerous provisions for accessibility, in the UK, the Equality Act 2010 has numerous provisions for accessibility.[wikivisually.com]
- I cover the various varieties of headphones under, entertainment for if you prevents drown under control. You’ll have the ability to find out about to might a giving a item a check drive (or even a test run, as the case might be).[dailybevy1175.wordpress.com]
- Furtherempirical investigation of such relations should be apriority for researchers as they hold importantimplications for the early detection, interventionand prevention of challenging behaviour in PWS.[docslide.net]