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Noonan's Syndrome - Possible Anomalies

This page lists anomalies, 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.

SKELETAL DEFECTS
• Cervical spine fusion(neck)
• Scoliosos
• Prominence of breast bone
• Depression of breast bone
• Cubitus Valgus (elbow deformity)
• Polydactyly
• 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)
• Malformations of the skeletal & muscular systems

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• Withdrawn/Depressed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 back of hands and tops of feet
• Simian creases; deeply grooved palms & 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)