Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with ATP6V0A2-Related Cutis Laxa]. - GeneReviews®

System/Concern	Evaluation	Comment
Congenital hip dislocation	For newborns: clinical exam w/hip ultrasound as needed For older child at diagnosis: pelvic x-ray (1x only) to identify hip dysplasia in the event that hip dislocation was not treated properly
Inguinal hernia(s)	Clinical eval
Cardiac valvular dysplasia	Echocardiogram
High myopia & other ophthalmic abnormality	Ophthalmologic exam, incl refraction (for myopia), slit-lamp exam, fundus exam	Slit-lamp exam allows diagnosis of corneal dysplasia (seen in 1 person).
DD/ID / Neurologic abnormality	Baseline neurodevelopmental eval Brain MRI EEG if seizures are suspected
Coagulation factor deficiencies	Full screening, incl von Willebrand factor [Beyens et al 2019b]
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of ATP6V0A2-related cutis laxa 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.

System/Concern

Evaluation

Comment

Congenital hip
dislocation

For newborns: clinical exam w/hip ultrasound as needed
For older child at diagnosis: pelvic x-ray (1x only) to identify hip dysplasia in the event that hip dislocation was not treated properly

Inguinal hernia(s)

Clinical eval

Cardiac valvular
dysplasia

Echocardiogram

High myopia &
other ophthalmic
abnormality

Ophthalmologic exam, incl refraction (for myopia), slit-lamp exam, fundus exam

Slit-lamp exam allows diagnosis of corneal dysplasia (seen in 1 person).

DD/ID / Neurologic
abnormality

Baseline neurodevelopmental eval
Brain MRI
EEG if seizures are suspected

Coagulation factor
deficiencies

Full screening, incl von Willebrand factor [Beyens et al 2019b]

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of ATP6V0A2-related cutis laxa 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.

From: ATP6V0A2-Related Cutis Laxa

GeneReviews^® [Internet].

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

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