A clinical study of noonan syndrome archives of disease. Estimates vary, but it is thought that between one in 1,000 to one in 5,000 children have noonan syndrome, with males and females equally affected. The incidence of ns is estimated as 1 in 1,000 to 1 in 2,500 births, so it is still a relatively rare condition. Aug 23, 2018 noonan syndrome is a pleiomorphic autosomal dominant disorder with cardinal features such as short stature, distinctive facial dysmorphia, webbed neck, and heart defects. Ns is one of the ras opathies, which are a class of pediatric disorders associated with genes that are members of the mitogenactivated protein kinase rasmapk pathway. It is one of the most common genetic conditions associated with congenital heart disease. Deepgestalt identifying rare genetic syndromes using. Noonan syndrome foundation, farmington, connecticut. The noonan syndrome support group, inc clinical features, diagnosis and management guidelines for those affected by noonan syndrome a parents guide to noonan syndrome a parents guide to noonan syndrome 112012. We train separately for each facial crop, and combine the trained. The recognition of a genetic syndrome with a facial phe notype has. Many individuals with noonan syndrome have bleeding issues and diathesis, so all people with ns should be tested for bleeding issues before having a surgery andor procedure. Jan 01, 2014 noonan syndrome is a common genetic disorder with multiple congenital abnormalities. The characteristic noncyanotic heart defects in the noonan syndrome do not appear to have a major influence on growth.
Clinical features, diagnosis and management guidelines for. Noonan syndrome ns is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptorchidism, increased bleeding tendency, and characteristic facial features that evolve with age. The nsf maintains a list of doctors and medical clinics available.
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. However, theyll typically need much less care as they get older. The condition may be inherited from a persons parents as an autosomal dominant condition, or as a new mutations during early development. Show full abstract study was to determine if these ecg characteristics are an independent feature of the noonan syndrome or if they are related to the congenital heart defect. Features of noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure skeletal malformations, and developmental delay. Patients with noonan syndrome ns typically have characteristic facial, cardiovascular, and skeletalgrowth abnormalities. It is characterised by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptorchidism, increased bleeding tendency and characteristic facial features that evolve with age. Noonan syndromelike disorder with loose anagen hair nslah is. It can also occur as a spontaneous mutation, meaning theres no family history involved. Noonan syndrome ns is the most common syndrome youve never heard of.
The invitae noonan syndrome panel analyzes up to 16 genes that are associated with noonan syndrome ns. Not everyone with the disorder will share the same characteristics. Jan 29, 2016 noonan syndrome ns is a common genetic disorder with multiple congenital abnormalities. Full cheeks, thick lips, wide mouth, and big tongue combine to give a coarse. Affected individuals can bear some clinical features similar to that of turner syndrome. Noonan syndrome orphanet journal of rare diseases full text.
Noonan syndrome is a disorder characterized by specific facial dysmorphisms, cardiovascular defects, short stature, and variable developmental delay. Approxi mately onehalf of the known mutations are in the protein tyrosine phosphatase non receptor, type 11 ptpn 11 gene. Despite this and its major impact on lives, it remains a comparatively little known condition. Noonan syndrome ns is one of the more common genetic conditions. Pdf ada2 deficiency in a patient with noonan syndromelike. It is characterized by congenital heart disease, short stature, a broad and. Theres no single treatment for noonan syndrome, but its possible to treat many aspects of the condition. Noonan syndrome nord national organization for rare disorders. The spectrum of cardiac anomalies in noonan syndrome as a.
Noonan syndrome at a glance noonan syndrome ns may include findings of short stature, heart defects, distinctive facial features, and developmental delays. The main facial features of ns are hypertelorism with downslanting palpebral fissures, ptosis and lowset posteriorly rotated ears with a thickened helix. The isolated autoinflammatory disease phenotype has emerged as a. Noonan syndrome atlas of human malformation syndromes in. Apr 30, 2018 noonan syndrome was first recognized as a unique entity in 1963 when noonan and ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. Noonan syndrome foundation genetic and rare diseases. The physical characteristics are not always obvious and can be hard to identify in individuals with more subtle traits. Management of noonan syndrome focuses on controlling the disorders symptoms and complications. Noonan syndrome is a type of rasopathy, the underlying mechanism for which involves a problem with a cell signaling pathway.
For this rea son, we decided to merge the 2 anomalies under the term pvs. Noonan syndrome is caused by mutations in the rasmitogen activated protein kinase mapk pathway, which is essential for cell cycle differen tiation, growth, and senescence. Noonan syndrome ns is a relatively common, autosomaldominant inherited disorder that is predominantly characterised by short stature, subtle facial dysmorphisms, chest deformity, congenital heart disease, and variable degrees of developmental delay. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. These patients were previously thought to have a form of turner syndrome, with which noonan syndrome shares numerous clinical features. Jan 14, 2007 noonan syndrome ns is characterised by short stature, typical facial dysmorphology and congenital heart defects. Other findings may include differences in clotting ability, chest shape, lymph system, and in the eye, etc. Noonan syndrome symptoms, diagnosis and treatment bmj. Benacerraf, et al 1989 the prenatal sonographic features of noonan syndrome. The range and severity of features can vary greatly and many cases are missed therefore, the syndrome is not always identified at an early age. Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent dominant inheritance. Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. Up to of individuals with ns have a mild intellectual disability. In general, certain proteins involved in growth and development become overactive as a result of these gene changes.
Noonan syndrome occurs in roughly 1 in 1,750 people. The cardinal features of noonan syndrome include unusual facies ie, hypertelorism, downslanting eyes, webbed neck, congenital heart disease, short stature, and chest deformity. Noonan syndrome synonyms, noonan syndrome pronunciation, noonan syndrome translation, english dictionary definition of noonan syndrome. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Age and sex distribution noonan syndrome is an inherited disorder present since birth. For a phenotypic description and a discussion of genetic heterogeneity of noonan syndrome, see ns1. Facial features include widely spaced eyes, lightcolored eyes, lowset ears, a short neck, and a small lower jaw. Watson syndrome has a number of similar characteristics with noonans syndrome such as short stature, pulmonary valve stenosis, variable intellectual development, and skin pigment changes. Dec 11, 2018 noonan syndrome is a lifelong disorder. Understanding human immunology through the study of primary. Noonan syndrome ns is a genetically and phenotypically heterogeneous nonaneuploidic congenital rasopathy. The three most common characteristics of noonan syndrome are. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. Management of noonan syndrome the rasopathies network. Noonan syndrome is a genetic disorder inherited as an autosomal trait or occurring sporadically, characterised by short stature, dysmorphic facies, webbed neck, congenital heart disease or.
A 3 year old male child was admitted to pediatric ward with cough, cold and breathlessness of 7 days duration. Apr 30, 2018 noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. The severity of ns is the same in males and females. In 6 9% of 70 brazilian patients with noonan syndrome but without mutation in selected exons of any known noonan syndrome causing genes, bertola et al. The noonan syndrome foundation nsf supports the vital role that a noonan syndrome ns or rasopathies clinic can play in improving the lives of those impacted. Noonan syndrome definition of noonan syndrome by the free. Noonan syndrome what are the characteristics of noonan. A number of genetic mutations can result in noonan syndrome. The noonan syndrome foundation believes that it is important to note the following all of which have been learned from experience. Noonan syndrome varies from relatively mild to severe. Noonan syndrome ns is characterised by short stature, typical facial dysmorphism and congenital heart.
Noonan syndrome should be suspected prenatally in any fetus with cystic hygroma and normal karyotype, especially if a congenital heart defect is noted particularly pulmonary stenosis. Noonan syndrome awareness asssociation nsaa au teaching strategies for noonan syndrome ns introduction children with ns may have visual, auditory, motor andor cognitive difficulties it is recommended that teachers ensure ns students have had visual, auditory. Noonan syndrome is a genetic disorder that causes birth defects congenital malformations such as short stature, cavedin chestbone, webbing of the neck as well as heart and blood vessel defects. Noonan syndrome differential diagnoses medscape reference. People suffering from this condition may have heart defects, problems with bleeding, and malformations of their skeletal structure. Noonan syndrome is an autosomal dominant condition. Oct 02, 2017 noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Cough was productive, associated with breathlessness which was sudden in onset, progressed to grade 4. Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Mutation screening focused on hotspot locations in the ptpn11.
Most affected individuals have characteristic facial. There was history of recurrent respiratory tract infections. Noonan syndrome is a condition that affects many areas of the body. Your child may initially need quite a lot of treatment and support to help manage the various problems they have. Did you know that 7,000,000 people worldwide may have ns. Noonan syndrome with multiple lentigines nsml, formerly known as leopard syndrome is a rare inherited disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and facial craniofacial area, andor the genitals. Cfc syndrome is very similar to noonans syndrome due to similar cardiac and lymphatic features. Noonan syndrome is linked to defects in several genes.
Evaluation of bleeding disorders in patients with noonan. Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, deafnes, multiple lentigines syndrome, cardiomyopathic lentiginosis, noonan syndrome with multiple lentigines. Noonan syndrome can affect a person in many different ways. Noonan syndrome ns is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. A syndrome is a collection of signs and symptoms stemming from an abnormal process. Your child may initially need quite a lot of treatment and. Noonan syndrome genetic and rare diseases information.
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