Disease Information for Noonan syndrome

Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Midfacial hypoplasia/flat face dysmorphism
Short neck/Brevicollis
Webbed neck deformity/Broad neck
Breast Swelling Bilateral
Delayed adolescence/secondary sex changes
Delayed male adolescence/pubescence
Newborn posterior neck skin folds/edema
Absence of both testes
Absent testicle
Scrotal rugae absent
Small testes
Small/soft testes
Undescended testicles
Poor weight gain/child
Mental Deficiency Child
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Growth/development delay
Short stature
Short stature Child
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Anterior facing ear lobes/sign
Low set ears/congenital
Low set/odd position ears
Posterior rotated ears deformity
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Population/Old child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Diagnostic Test Results
PATH/Karyotype XY normal
Associated Diseases & Rule outs
Rule Outs
Klinefelter's syndrome
Turner syndrome
Associated Disease & Complications
Anorchia/Hypoplasia testes
Atrial septal defect
Bleeding Tendency
Congenital heart disease
Congenital right-sided heart disease
Congenital urinary tract malformations
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Hypogonadism, male
Infertility/sterility male
Mental retardation
Primary male hypogonadism/hypergonadotropic
Pulmonic valve stenosis
Skeletal dysplasia
Skeletal/bone malformations
Testicular atrophy
Valvular heart disease
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology/Gene locus 12q24
Pathophysiology/Gene locus 12q24.1
Pathophysiology/Gene locus 17q11
Pathophysiology/Gene locus 17q11.2
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene locus Chromosome 17q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hypergonadotrophic hypogonadism
Pathophysiology/Deficient testosterone production
Pathophysiology/Leydig cell function decrease/defect
Pathophysiology/Secondary Testicular Failure
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
familial Turner syndrome, Noonan, Noonan Ehmke syndrome, Noonan Syndrome, Noonan syndrome (disorder), NOONAN SYNDROME 1, Noonan's syndrome, Noonan's syndrome (disorder), NS1, PSEUDO TURNER SYNDROME, pseudo Ullrich Turner syndrome, Turner like syndrome, TURNER PHENOTYPE WITH NORMAL KARYOTYPE, Turner syndrome in female with X chromosome, Turner's phenotype karyo norm, Turner's phenotype karyotype normal, Turner's phenotype karyotype normal (disorder), Ullrich Noonan syndrome, Ullrich Turner syndrome, Synonym/XX male syndrome, Synonym/Male Turner syndrome, Synonym/Saldino-Noonan syndrome, Synonym/Ullrich-Turner syndrome

A multifaceted disorder that is characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION; The phenotype resembles that of TURNER SYNDROME; however, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY); Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant; Female Pseudo-Turner Syndrome; Male Turner Syndrome; NS; Turner Phenotype with Normal Chromosomes (Karyotype); Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital); The disorder may be characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity; In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low hairline in the back of the head; and short stature; Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism);vertical skin folds that may cover the eyes" inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae); Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus); Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis); Additional abnormalities may include malformations of certain blood and lymph vessels,

blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings;

In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations); In others, the disorder may be transmitted as an autosomal dominant trait; Genetic analysis of one

affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24); However, many investigators indicate that Noonan syndrome may be

caused by mutations of different genes (genetic heterogeneity)---------[NORD 2005]--------------


External Links Related to Noonan syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)