Table 5.

Recommended Surveillance for Individuals with Rhizomelic Chondrodysplasia Punctata Type 1

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters & plotting on RCDP-specific growth curves 1
  • Eval of nutritional status & safety of oral intake
At each visit
Respiratory Monitor for evidence of aspiration, respiratory insufficiency.
Neurologic
  • Assess for new manifestations such as seizures.
  • Monitor those w/seizures as clinically indicated.
  • Neurologic exam for signs of myelopathy that could suggest cord compression
Phytanic acid
accumulation 		In children w/nonclassic (mild) RCDP1: measure phytanic acid levels. 2Annually
Development &
behavior 		In children w/nonclassic (mild) RCDP1: monitor developmental progress & educational needs; assess for ASD & ADHD. 3At each visit
Musculoskeletal
  • Physical medicine, OT/PT assessment of mobility, range of motion
  • Monitor for development of kyphosis or scoliosis.
Eyes
  • Vision
  • Need for vision services
Every 3 mos until cataracts detected, then as recommended by treating ophthalmologist
Cardiovascular Cardiac exam, ECHO, & EKG as neededPer treating cardiologist
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing; other local resources) & care coordination.At each visit

Based on the health supervision guidelines for primary caretakers proposed in a retrospective review of the natural history of classic (severe) RCDP1 in 35 individuals [White et al 2003]

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder

1.
2.

Surveillance of phytanic acid levels in individuals with milder disease is useful to prevent neurologic consequences of phytanic acid accumulation [Smeitink et al 1992].

3.

From: Rhizomelic Chondrodysplasia Punctata Type 1

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