Table 4. [Recommended Evaluations Following Initial Diagnosis of Koolen-de Vries Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Assessment of growth parameters to identify those w/failure to thrive	Consider investigation of growth hormone deficiency in persons w/short stature.
Gastrointestinal/ Feeding	Feeding assessment	Assess for sucking & swallowing difficulties & need for feeding therapy in infancy.
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Neurologic	Brain imaging studies in persons w/microcephaly &/or seizure	Consideration of Chiari malformation type 1 in those w/suggestive symptoms (headache, neck pain, cerebellar signs, or muscle weakness) ¹
EEG if seizures are suspected	Referral to neurologist for seizure disorder mgmt
Neurobehavioral/ Psychiatric	Neuropsychiatric eval	For persons age >12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Eyes	Ophthalmologic eval	To assess for hypermetropia, strabismus, congenital cataract, &/or optic atrophy, which may require referral for subspecialty care &/or low vision services
Hearing	Audiologic exam	To assess for hearing loss
Musculoskeletal	Orthopedics / physical medicine & rehab / PT & OT eval	To incl assessment of: Gross motor & fine motor skills Joint hypermobility, pes planus, calcenovalgus deformity, scoliosis/kyphosis, pectus anomalies Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Cardiovascular	Cardiac eval to incl echocardiogram	For possible heart anomalies incl septal defects & aortic dilatation
Genitourinary	Physical exam for hypospadias & cryptorchidism in males Renal ultrasound exam Voiding cystourethrogram, if indicated	Evaluate for ureteral reflux & other renal findings.
Integument	Full skin exam	To assess for hemangiomas & multiple nevi
Respiratory	Upper airway eval	In infants & children w/signs or symptoms suspicious of tracheo-/laryngomalacia
Genetic counseling	By genetics professionals ²	To inform affected persons & their families re nature, MOI, & implications of KdVS to facilitate medical & personal decision making
Family support & resources		Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral; Information & resources for sibs of persons w/KdVS.

System/Concern

Evaluation

Comment

Constitutional

Assessment of growth parameters to identify those w/failure to thrive

Consider investigation of growth hormone deficiency in persons w/short stature.

Gastrointestinal/
Feeding

Feeding assessment

Assess for sucking & swallowing difficulties & need for feeding therapy in infancy.

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Neurologic

Brain imaging studies in persons w/microcephaly &/or seizure

Consideration of Chiari malformation type 1 in those w/suggestive symptoms (headache, neck pain, cerebellar signs, or muscle weakness) ¹

EEG if seizures are suspected

Referral to neurologist for seizure disorder mgmt

Neurobehavioral/
Psychiatric

Neuropsychiatric eval

For persons age >12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD

Eyes

Ophthalmologic eval

To assess for hypermetropia, strabismus, congenital cataract, &/or optic atrophy, which may require referral for subspecialty care &/or low vision services

Hearing

Audiologic exam

To assess for hearing loss

Musculoskeletal

Orthopedics / physical medicine & rehab / PT & OT eval

To incl assessment of:

Gross motor & fine motor skills
Joint hypermobility, pes planus, calcenovalgus deformity, scoliosis/kyphosis, pectus anomalies
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Cardiovascular

Cardiac eval to incl echocardiogram

For possible heart anomalies incl septal defects & aortic dilatation

Genitourinary

Physical exam for hypospadias & cryptorchidism in males
Renal ultrasound exam
Voiding cystourethrogram, if indicated

Evaluate for ureteral reflux & other renal findings.

Integument

Full skin exam

To assess for hemangiomas & multiple nevi

Respiratory

Upper airway eval

In infants & children w/signs or symptoms suspicious of tracheo-/laryngomalacia

Genetic counseling

By genetics professionals ²

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

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral;
Information & resources for sibs of persons w/KdVS.

From: Koolen-de Vries Syndrome

GeneReviews^® [Internet].

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

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