Who to See Next...

The list of complications inherent with Noonan Syndrome comes with a vast support system. Because of the variable expressivity of NS, not all cases require the services of all the professionals. In addition to geneticists and genetic counselors, there are specialists, medical professionals and support service personnel to cover every aspect of the syndrome. The following list includes specialists and their possible role as it relates to some of the known issues.

If your journey could be strengthened with their support, ask for it. Some require a referral which is generally available through your MD or pediatrician. If you’re unsure, request the appointment anyways. You have nothing but time to loose and have everything to gain.

For simplicity, the list is in alphabetical order.

Audiologist: tests hearing which can be affected from birth or lost due to repeated ear infections.

Cardiologist: checks the heart for various defects and complications. The number of appointments annually depends on the specific issue and severity. Most common NS related complications are pulmonary valve stenosis, murmur, hypertrophic cardiomyopathy

(Paediatric) Dentist: hypernasality, high arched palate, enamel issues

Dermatologist: vitiglio - white skin patches where there is an absence of pigment

Developmental Pediatrician: often helps with diagnosis older/school age children when milestones start to be missed or there are behavioural/cognative issues highlighted in school interactions and performance. In cases with early diagnosis, the Dev. Ped. helps form a plan to deal with hypersensitivity, obsessive behaviour, under/overactive, extreme mood swings and various other difficult behaviours (aggressiveness, withdrawn, depressed, etc.). They also deal with fine and gross motor delays, poor coordination, mental retardation, and learning disabilities, generally working in partnership with Occupational and Physio therapists.

Dietitian/Nutritionist: helps develope meal plans to ensure growth and to meet specific dietary needs for children having difficulty with digestion, food sensitivites, etc.

(Paediatric) Endocrinologist: tracks overall growth to determine if/when intervention is necessary for proper height. Also deals with osteoporosis, bone age issues, underdeveloped primary sex organs, delayed puberty or lack of sexual development and thyroid issues.

ENT / Otolaryngologist: "Ear / Nose / Throat" specialist - deals with the repeated ear infections common to NS. The unique ear placement of NS can result in structural issues involving the ear cannal and ultimately affecting hearing. Apnea is also common with NS due to enlarged tonsils and adenoids all of which can be assessed by a competent ENT.

(Paediatric) Gastroenterologist: deals with intestional and digestive issues including GastroEsophageal Reflux Disease (GERD), failure to thrive, tube feedings, frequent / forceful vomitting, difficulties swallowing and G / NG tube issues. Also deals with vitamin deficiencies such as K which can highlight liver disorder.

(Paediatric) General Surgeon: deals with soft tissue issues (vs skeletal - see Orthopedic surgeon below) such as lymphedema - the build up of fluids due to problems in the lymphatic system.

Geneticist: see "Visiting the Geneticist"

(Paediatric) Haematologist: deals with blood and circulatory issues including easy bruising, platelet disfunction (thrombocytopenia), clotting defects, Von Willebrand Disease, and Factor deficiencies (VIII:C, XI:C, XII:C)

(Paediatric) Neurologist / Neurosurgeon: though not common or unique to NS, a paediatric neurologist or neurosurgeon would help deal with convulsions and/or seizures as well as any cases of hydrocephaly (fluid build up on the brain)

Occupational Therapist: deals with fine motor development which is the basis of skills needed for independent living ie) eating, dressing, etc.

(Paediatric) Ophthalmologist: an eye specialist who deals with the complications inherent with wider eye spacing (hypertolerism, inward / outward turning, strabismus, nystagmus - jerky movement), and droopy eyelids (ptosis) common to NS.

(Paediatric) Orthopedic Surgeon: deals with general skeletal complications such as scoliosos, breast bone deformaties, elbow deformities, and joint complications (tightness or hyperextensibility / looseness)

Physiotherapist: deals with gross motor function and muscle development needed for locomotion starting with the basics like sitting up, crawling, standing, walking, etc. and developing muscle memory (the ability to do a motion without thinking about it)

Plastic Surgeon: can be involved earlier if there is excessive scar tissue build up following surgeries. May also become involved later if the cosmetic issues of NS (webbed neck, eye folds etc) become a hindrance to social development.

Speech Pathologist: helps children having speech difficulties due to developmental delay, hearing problems, etc.

(Paediatric) Urologist: most commonly, in this circumstance, deal with cryptocordism - undecended testicles

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