Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with Cranioectodermal Dysplasia]. - GeneReviews®

System/Concern	Evaluation	Comment
Sagittal craniosynostosis	Head CT exam in those w/dolichocephaly	To evaluate for craniosynostosis
Skeletal features	Radiograph of thorax & long bones
Ectodermal manifestations	Physical exam of skin, hair, nails, & teeth
Dental anomalies	Dental eval
Nephronophthisis	Urinalysis (first AM void) (& optional 24-hour urine collection) to identify polyuria Osmolarity testing on morning urine Blood pressure Serum creatinine & blood urea concentration Renal ultrasound exam	Renal biopsy is often taken after detection of abnormalities.
Hepatic fibrosis	Liver ultrasound exam Measurement of transaminases & synthetic liver function
Retinal dystrophy	Ophthalmologic eval	By age 4 yrs; ERG & fundoscopy can be performed earlier if evidence of ↓ vision.
Pulmonary manifestations (respiratory distress, asthma, pneumothorax)	Eval by pulmonologist
Cardiac malformations	Cardiac eval incl EKG & echocardiogram
Developmental delay	Developmental eval	Brain MRI in those w/delays to assess cause
Genetic counseling	By genetics professionals ¹	To inform affected persons & families re nature, MOI, & implications of CED to facilitate medical & personal decision making
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine need for: Community or online resources such as Parent to Parent Social work involvement for parental support Home nursing referral

System/Concern

Evaluation

Comment

Sagittal
craniosynostosis

Head CT exam in those w/dolichocephaly

To evaluate for craniosynostosis

Skeletal features

Radiograph of thorax & long bones

Ectodermal
manifestations

Physical exam of skin, hair, nails, & teeth

Dental anomalies

Dental eval

Nephronophthisis

Urinalysis (first AM void) (& optional 24-hour urine collection) to identify polyuria
Osmolarity testing on morning urine
Blood pressure
Serum creatinine & blood urea concentration
Renal ultrasound exam

Renal biopsy is often taken after detection of abnormalities.

Hepatic fibrosis

Liver ultrasound exam
Measurement of transaminases & synthetic liver function

Retinal dystrophy

Ophthalmologic eval

By age 4 yrs; ERG & fundoscopy can be performed earlier if evidence of ↓ vision.

Pulmonary
manifestations
(respiratory
distress, asthma,
pneumothorax)

Eval by pulmonologist

Cardiac
malformations

Cardiac eval incl EKG & echocardiogram

Developmental
delay

Developmental eval

Brain MRI in those w/delays to assess cause

Genetic
counseling

By genetics professionals ¹

To inform affected persons & families re nature, MOI, & implications of CED to facilitate medical & personal decision making

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

Community or online resources such as Parent to Parent
Social work involvement for parental support
Home nursing referral

From: Cranioectodermal Dysplasia

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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