Possible Anomalies
This page lists anomolies that are often noted in persons with Noonan Syndrome. This does not mean that all anomalies are seen in all persons with the disorder. Some people with Noonan Syndrome may have only a few of these anomalies and some may have many. There are also differences in terms of the severity of each of these anomalies.
Definitions:
- ANOMALY-deviation from the common rule; something abnormal or
irregular
SYNDROME- a set of symptoms that characterize a certain disease or condition
SKELETAL DEFECTS
- Cervical spine fusion(neck)
- Scoliosos
- Prominence of breast bone
- Depression of breast bone
- Cubitus Valgus (elbow deformity)
- Polydactyly (having extra fingers or toes)
- Joint contractures or tightness
- Joint hyperextensibility or looseness
- Osteoporosis
- Retarded Bone age
- Shortness of stature
- Broad Forehead
- Small chin
- Cherubism cheekbone deformity causing a lowering of the eyelid (appears as though person is looking upward as in angels and cherubs in renaisance paintings)
- Inguinal and umbilical hernias
- Winging of the scapula
- Hypotonia (low muscle tone)
GENITO-URINARY SYSTEMS
- Underdeveloped primary sex organs
- Cryptocordism (undescended testicles)
- Hypospadias(urethral opening misplaced)
LYMPHATIC SYSTEM
- Posterior Cervical Hygroma (webbed neck)
- Lymphedema (build-up of body fluid due to poor functioning of the lymphatic system
BEHAVIORAL/SOCIAL
- Chronic crying in infancy
- Overly Sensitive
- Stubborn
- Irritable
- Obsessive behavior; liking of routine
- Overactive
- Underactive
- Squirmy/Fidgety
- Withdrawn/Depressed
- Extreme mood swings
- Aggressive behavior
- Short attention span
DEVELOPMENTAL
- Delayed puberty
- Lack of sexual development
- Clumsy; poor coordination
- Gross motor delays
- Fine motor delays
- Possible mental retardation
- Mental retardation
- Learning disabilities
VISION/EYES
- Widely set eyes (hypertolerism)
- Drooping of the eyelids (ptosis)
- Refractive errors in vision
- Inward or outward turning of the eyes
- Strabismus (crossed eyes)
- Anterior Uvetis (infllammation of the front part of the eyes [iris, cornea etc.] )
- Nystagmusjerking movement of the eyes
SKIN
- Edema of the back of hands and tops of feet
- Simian creases; deeply grooved palms and bottoms of feet
- Hirsutism (excessive hair growth on body parts)
- Curly Hair
- Low posterior hairline
- Cutaneous Lymphangioma(wart-like growth on the skin, very small, made up of abnormal lymph vessels)
- Keloids (excessive buildup of scar tissue on the skin following a cut or surgery)
- Over development of outer skin layer(hyperkeratosis)
- Pigmented birthmarks(nevus)
- Vitiglio(white patches on skin; lack of pigment cells)
CIRCULATORY
- Bruises easily
- Vasculities(blood vessel inflammation;many types and causes)
- Thrombocytopenia (low platelet count)
- Amegakaryocytic Thrombocytopenia(low platelet count due to absence of platelet making cells;
- Blood Clotting Defects
- Von Willebrand disease
- Prolonged activated partial thromboplastin time
- Partial deficiency of Factor VIII:C
- Partial deficiency of Factor XI:C
- Partial deficiency of Factor XII:C
- Combined Coagulation deficiencies
HEARING
- Low set
- Incomplete folding of ears
- Thick helix of ear (outer rim)
- Chronic Otitis media (ear infections)
- Glue Ear (thick glue-like fluid behind ear drum
- Micrognathia (small mouth)
- High Arched palate
- Dental problems
- Hypernasality
- Articulation Difficulties
- Speech and Language delays
- Poor tongue control
NUTRITION AND EATING HABITS
- Failure to thrive as infant
- NG Tube feedings
- Eating less than normal
- Faddy eater
- Digestive/Intestinal problems
- Frequent or forceful vomiting
- Swallowing difficulties
- G-Tube feedings
PHYSICAL APPEARANCE
- Large Head
- Small Head
- Triangular face shape
- Short neck, webbed neck, posterior cervical
- hygroma (extra skin on back of neck)
- Deeply grooved philtrum or top lip line
- Bluntly ended fingers
- Extra padding on fingers and toes
- Distended abdomen
HEART
- Pulmonary Valvular Stenosis
- ASD/VSD
- Heart Murmur
- Cardiac Myopathy
MISCELLANEOUS
- Elevated Alkaline Phosphate(an enzyme made
- the liver or bone indicating liver problem, vit K deficiency
- Convulsions
- Seizures
- Autoimmune Disfunction
- Autoimmune Thyroiditis (disease of the thyroid gland immune system attacks thyroid gland)
- Hypoparathyroidism (affects calcium balance in the body)
- Malignant Hyperthermia (abnormal response to anesthesia causing extreme high temperature)
- Hydrocephaly (fluid on the brain)
PREGNANCY
- Polyhydramnios
- Fetal Ultrasound Discoveries such as cervical hygroma, etc.
This page is to be used for informational purposes only. Any of the information herein may not be complete or accurate and should NOT be used as a substitute for seeking professional medical diagnosis, treatment and care.
The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.