Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

Organ/Concern	Evaluation	Comment
Constitutional	Measure height, weight, head circumference.	Growth restriction is seen in 100% of persons w/classic (severe) RCDP1.
Biochemical	Measure erythrocyte plasmalogen levels if not already performed.	To help differentiate between classic & nonclassic (mild) RCDP1, to set appropriate growth, medical, & developmental expectations
Neurology	MRI of the entire spine (incl flexion & extension views of the cervical spine for cervical stenosis) should be strongly considered. ¹	Spinal cord compression may occur at any level & can co-occur w/upper cervical movement; tethered cord can also be present.
MRI of the brain (could be done at the time of the spinal MRI)	To evaluate for atrophy, myelin abnormalities
Musculoskeletal	Orthopedics / physical medicine & rehab / PT & OT eval	To incl assessment of: Gross motor & fine motor skills Contractures & assoc pain, mobility, activities of daily living, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Skeletal survey to incl: AP/lateral spine, AP bilateral lower extremities in 1 view, AP bilateral upper extremities, & flexion/extension cervical spine	Document extent of skeletal dysplasia & chondrodysplasia punctata.
Eyes	Ophthalmologic exam	For evidence of congenital cataracts
Development & behavior	Developmental assessment	To incl motor, adaptive, cognitive & speech-language eval
Seizures	EEG	Eval of various seizure types
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	To incl eval of aspiration risk & nutritional status Consider eval for gastrostomy tube placement & Nissen fundoplication.
Cardiovascular	Echocardiogram to evaluate for congenital heart defects	To incl eval for septal defects, tetralogy of Fallot, mitral valve prolapse
Respiratory	Eval for respiratory insufficiency	Due to neurologic compromise, aspiration, immobility, restrictive lung disease, & small chest
Renal	Eval for congenital anomalies	Ureteropelvic junction obstruction has been observed.
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling
Family supports/resources	Assess need for: Community or online resources incl Rhizokids International and Parent to Parent; Social work involvement for parental support; Home nursing referral.

Organ/Concern

Evaluation

Comment

Constitutional

Measure height, weight, head circumference.

Growth restriction is seen in 100% of persons w/classic (severe) RCDP1.

Biochemical

Measure erythrocyte plasmalogen levels if not already performed.

To help differentiate between classic & nonclassic (mild) RCDP1, to set appropriate growth, medical, & developmental expectations

Neurology

MRI of the entire spine (incl flexion & extension views of the cervical spine for cervical stenosis) should be strongly considered. ¹

Spinal cord compression may occur at any level & can co-occur w/upper cervical movement; tethered cord can also be present.

MRI of the brain (could be done at the time of the spinal MRI)

To evaluate for atrophy, myelin abnormalities

Musculoskeletal

Orthopedics / physical medicine & rehab / PT & OT eval

To incl assessment of:

Gross motor & fine motor skills
Contractures & assoc pain, mobility, activities of daily living, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Skeletal survey to incl: AP/lateral spine, AP bilateral lower extremities in 1 view, AP bilateral upper extremities, & flexion/extension cervical spine

Document extent of skeletal dysplasia & chondrodysplasia punctata.

Eyes

Ophthalmologic exam

For evidence of congenital cataracts

Development &
behavior

Developmental assessment

To incl motor, adaptive, cognitive & speech-language eval

Seizures

EEG

Eval of various seizure types

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

To incl eval of aspiration risk & nutritional status
Consider eval for gastrostomy tube placement & Nissen fundoplication.

Cardiovascular

Echocardiogram to evaluate for congenital heart defects

To incl eval for septal defects, tetralogy of Fallot, mitral valve prolapse

Respiratory

Eval for respiratory insufficiency

Due to neurologic compromise, aspiration, immobility, restrictive lung disease, & small chest

Renal

Eval for congenital anomalies

Ureteropelvic junction obstruction has been observed.

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

To incl genetic counseling

Family supports/resources

Assess need for:

Community or online resources incl Rhizokids International and Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Rhizomelic Chondrodysplasia Punctata Type 1

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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