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Management

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First Steps After Confirming Diagnosis

Prenatal Diagnosis

Initial management following prenatal diagnosis is aimed at decision-making, delivery planning and providing anticipatory guidance.

  1. Decision-making counseling regarding pregnancy continuation, termination, and adoption
  2. Coordinate MFM follow-up and periodic ultrasounds for monitoring long bone, thoracic, and cranial growth
  3. Consideration of caesarean section delivery based on ratio of fetal head size to maternal pelvis
  4. Arrange neonatology consultation

Postnatal Diagnosis

Initial management following postnatal diagnosis is aimed at screening for complications and providing anticipatory guidance.

  1. Neurologic exam for signs of:
    • accelerated head growth,
    • hypotonia,
    • bulging fontanel, lethargy,
    • irritability,
    • unexplained headaches or vomiting;
    • numbness,
    • radiating pain,
    • limb weakness,
    • clumsiness,
    • gait changes,
    • bowel and bladder incontinence;
    • excessively brisk or asymmetric reflexes,
    • ankle clonus,
    • early hand preference,
    • lethargy,
    • irritability

  2. MRI or CT to rule out hydrocephalus and spinal cord compression
  3. Sleep history for evidence of apnea, consideration of sleep studies
  4. Feeding evaluation

Diet, Exercise, and Lifestyle Interventions

Diet and Exercise

  • Exercise should be encouraged for strength building and obesity prevention.
  • Swimming and biking are encouraged
  • Gymnastics and contact sports should be avoided due to joint instability and risk of neurologic compromise
  • Obesity should be avoided to reduce risks associated with airway obstruction and musculoskeletal limitations

Self-care

  • Provide careful neck support when handling infants.
  • Avoid carriers, swings and any position that allow infant to curl up at the back.
  • Unsupported sitting should be discouraged until after 1 year of age and the child can support his/her head well.
  • Assistive devices are available to improve accessibility and independence in the home, school, automobile and workplace
  • Safety devices in automobiles such as children's car seats, seat belts, and air bags should be used, as in average stature

 

Longitudinal Care

Follow-up Testing/Screening/Monitoring

System   Age Frequency

Growth

Monitor height and weight
(Male
Female
Female ht vs. wt)

Childhood

Every pediatric visit

Eyes

N/A

 

 

ENT

ENT evaluation

6 months - preschool

Every 6-12 mo

 

Hearing screen

Ongoing

annually

 

Speech evaluation

No later than 2 years

By age 2, then as indicated if hearing loss

Dental

Monitor for dental crowding

ongoing

?

Cardiovascular

N/A

 

 

Respiratory

Sleep studies to evaluate for obstruction and/or central apnea

 

in first year, before school, and if symptoms of excessive snoring or apnea

Gastrointestinal

Caloric needs and prevention of obesity as indicated

Ongoing?

?

Gentiourinary

N/A

 

 

Musculoskeletal

Clinical evaluation of spine

0-3 yrs

Every 6 mo

 

Monitoring for complications associated with joint instability

Ongoing?

?

 

Monitoring for spinal stenosis: numbness, radiating pain, limb weakness, clumsiness, gait changes, bowel and bladder incontinence

Ongoing?

?

Skin

N/A

 

 

Neurological

Measure head circumference
(male chart
female chart)

0-1 year

Every 1-2 mo

 

MRI or CT of skull base

At diagnosis, with signs of hydrocephalus, cord compression, or spinal stenosis

 

 

Monitoring for accelerated head growth, hypotonia, bulging fontanel, lethargy, irritability, unexplained headaches or vomiting; spinal stenosis: numbness, radiating pain, limb weakness, clumsiness, gait changes, bowel and bladder incontinence; excessively brisk or asymmetric reflexes, ankle clonus, early hand preference.

?

?

 

Neurologic exam

At diagnosis, adulthood

Every year in adulthood

Psychiatric

N/A

 

 

Endocrine

N/A

 

 

Hematologic/lymphatic

N/A

 

 

Allergic/immunologic

N/A

 

 

Development

Monitoring of motor development milestones

 

 

Care Team Members

  • Genetics - at diagnosis and for routine health maintenance every 6-12 months through 5-7 years, then annually unless complications arise, again in adolescence and early adulthood, and pre-conception/prenatally
  • Neurology - at diagnosis, then in adulthood every 3-5 years
  • Speech – by 2 years of age, and as necessary with hearing loss
  • ENT - every 6-9 months
  • Sleep specialists – as screening for obstructive and central apnea in the first year, before starting school and with signs of excessive snoring, apnea
  • Nutrition - for individuals with obesity
  • Orthopedics - as necessary for lower extremity malalignment and spinal deformations
  • Neurosurgery – as necessary for compression at the cervicomedullary junction and throughout the spine
  • MFM specialist—for prenatally diagnosed achondroplasia and for pregnancy in women with achondroplasia
  • Social worker and/or psychologist

Physical/Occupational/Speech/Developmental Therapies

  • Targeted therapy if signs of motor delay beyond typical for achondroplasia
  • Avoid allowing or encouraging the child to sit before he/she can manage the large head and before adequate back strength is obtained (would exacerbate undesired curvature)
  • Speech therapy as necessary with hearing loss

Psychology/Counseling

  • Social stigma due to short stature is a serious risk, but can be ameliorated by counseling and support groups
  • Parents, young children, and adolescents may need guidance regarding how to communicate with family, friends, educators, employers and coworkers about diagnosis.
  • Career and education goals, dating, and other social concerns should be addressed with a counselor.
  • Suitable clothing may be difficult to find. Support groups may provide resources.

Medications

Surgery and/or Procedures

  • Airway obstruction
    • Adenotonsillectomy is often performed to improve airway.
    • CPAP nasal mask
    • Tracheostomy is rarely required.
  • Small foramen magnum and cord compression
    • Suboccipital decompression may be required to reduce risk of cord compression, apnea and sudden death.
  • Musculoskeletal
    • Surgical limb lengthening may increase height 6- 12 inches and may improve lumbar lordosis. It is essential such extensive surgery is undertaken at an established surgical center with specialists who are equipped to manage potential complications.
    • Growth hormone treatment is minimally effective
    • Bracing may be needed for severe kyphosis and knee instability
    • Spinal fusion may be needed for kyphosis
    • Lumbar decompression and laminectomy may be needed for spinal stenosis
  • Venipuncture may be difficult due to limited extension of elbows. Different site for vein identification may be needed.
  • Other
    • Caesarean section for affected or unaffected mothers if fetal head size is greater than maternal pelvis can accommodate

Other Interventions

None

Treatments and Interventions to Avoid

  • Spinal anesthesia may not be recommended if pre-existing symptomatic stenosis or prior instrumentation of the spine has occurred. Otherwise, with careful consultation with neurosurgeon, orthopedist and/or anesthesiologist, spinal anesthesia may be used in some circumstances.

Reproductive Implications

  • Contraceptive diaphragms can be difficult to use due to short arms and limited elbow extension
  • Pregnancy management for women with achondroplasia:
    • MFM consultation
    • High resolution ultrasound examination
    • Small maternal pelvis may require caesarean section delivery
    • Risk for maternal respiratory and neurologic compromise
    • Anesthesia during labor and delivery may be challenging due to ….

Prognosis

  • Majority live normal life-span
    • A small percentage of infants have sudden death due to respiratory and neurologic compromise. Risk is lowered with aggressive monitoring
    • A small percentage of adults have sudden death in 4th or 5th decade for unclear reasons
  • Expect motor delays; walking may occur between 2 and 3 years of age
  • Expect normal cognitive development
    • A small percentage have intellectual delay due to complications of hydrocephalus or for other reasons unrelated to achondroplasia
  • Psychosocial problems may arise due to social stigma
  • Majority live independent, productive lives with adaptive assistance
  • Final adult height around 52-56 inches
    • Surgical limb lengthening techniques may increase height 6-12 inches
    • Growth hormone treatment is minimally effective

Presymptomatic or Asymptomatic Patients

N/A

Consensus Statements and Guidelines

Trotter et al. American Academy of Pediatrics Clinical Report: Health Supervision for Children with Achondroplasia. Pediatrics. 2005; 116(3):771-783.