Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Screening
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. 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. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
- Coarctation of aorta
- Ptosis
- Hypertrophic cardiomyopathy
- Chylothorax
- Cryptorchidism
- Patent ductus arteriosus
- Factor XII deficiency disease
- Sensorineural hearing impairment
- Atrial septal defect
- Ventricular septal defect
- Hypertelorism
- Hypogonadism
- Male infertility
- Lymphedema
- Dental malocclusion
- Micrognathia
- Myopia
- Synovitis
- Dry skin
- Cubitus valgus
- Cystic hygroma
- Neurofibrosarcoma
- Webbed neck
- Cafe-au-lait spot
- Brachydactyly
- Low-set ears
- High palate
- Wooly hair
- Short stature
- Juvenile myelomonocytic leukemia
- Amegakaryocytic thrombocytopenia
- Downslanted palpebral fissures
- Bruising susceptibility
- Short neck
- Kyphoscoliosis
- Epicanthus
- Hypospadias
- Hearing impairment
- Abnormal bleeding
- Wide intermamillary distance
- Shield chest
- Triangular face
- Radial deviation of finger
- High, narrow palate
- Broad forehead
- Low posterior hairline
- Postnatal growth retardation
- Abnormal sternum morphology
- Superior pectus carinatum
- Pectus excavatum of inferior sternum
- Failure to thrive in infancy
- Pulmonic stenosis
- Feeding difficulties in infancy
- Cleft palate
- Intellectual disability
- Reduced factor XIII activity
- Clinodactyly
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