TABLE 1.

Achondroplasia Guidelines for Health Supervision

PrenatalInfancy, 1 mo to 1 y of AgeEarly Childhood, 1 to 5 y of AgeLate ChildhoodAdolescence
Neonatal2 mo4 mo6 mo9 mo12 mo15 mo18 mo24 mo3 y4 y5 to 13 y, Annual13 to 21 y, Annual
Diagnosis
    RadiographyWhenever the diagnosis is suspected
    Review phenotypeWhenever the diagnosis is suspected
    Review proportionsWhenever the diagnosis is suspected
    Molecular testing [FGFR3]See textWhen diagnosis is not certain
Genetic counseling
    Early interventionX
    Recurrence risksXXX
    Reproductive optionsXXX
    Family supportXXXXX
    Support groupsXXXXX
    Long-term planningXXXX
Medical evaluation
    Growth/weight/OFCXXXXXXXXXXX
    Orthopedic consult
    Neurology consult
    HearingX RX RX RX R
    Social readinessSSSS
    OrthodonticsRRR
    SpeechS/OS/OS/OS/OOO
Medical evaluation
    Radiography, only to make diagnosis or if complication
    CT/MRI brain/cervical spineX
    PolysomnographyXAs indicated
Social adjustment
    PsychosocialSSSSS
    Behavior and developmentS/OS/OS/OS/OS/OS/OS/OS/OS/OS/O
    SchoolOOO
    SexualityX
  • These guidelines ensure compliance with AAP recommendations for preventive pediatric health care. FGFR3 indicates fibroblast growth factor receptor type 3; X, to be performed; S, subjective, by history; O, objective, by a standard testing method; R, discuss referral to a specialist; →, continue to monitor.