Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with Aymé-Gripp Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Ears	Audiologic exam	To evaluate for hearing loss
Eyes	Ophthalmologic exam	To evaluate for cataracts & vision
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Psychiatric	Neuropsychiatric eval	In persons age >12 mos: screen for traits suggestive of ASD.
Neurologic	Neurologic eval	To incl EEG & consideration of brain MRI if seizures are suspected
Skeletal	Consider radiographs of forearm, hand/foot, elbow, chest, spine, pelvis.	To assess for radioulnar synostosis, carpal/tarsal bone defects, radial/femoral head dislocation, pathologic fractures, & scoliosis
Cardiac	Echocardiogram	To assess for pericardial effusion & congenital heart defects
Dental	Dental eval	To assess for oligodontia & other dental anomalies
Endocrine	Thyroid function tests ¹	To assess for hypothyroidism, particularly in those w/poor growth velocity
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling
Family supports/resources	Assess need for: Community or online resources such as Parent To Parent; Social work involvement for parental support.

System/Concern

Evaluation

Comment

Ears

Audiologic exam

To evaluate for hearing loss

Eyes

Ophthalmologic exam

To evaluate for cataracts & vision

Development

Developmental assessment

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

Psychiatric

Neuropsychiatric eval

In persons age >12 mos: screen for traits suggestive of ASD.

Neurologic

Neurologic eval

To incl EEG & consideration of brain MRI if seizures are suspected

Skeletal

Consider radiographs of forearm, hand/foot, elbow, chest, spine, pelvis.

To assess for radioulnar synostosis, carpal/tarsal bone defects, radial/femoral head dislocation, pathologic fractures, & scoliosis

Cardiac

Echocardiogram

To assess for pericardial effusion & congenital heart defects

Dental

Dental eval

To assess for oligodontia & other dental anomalies

Endocrine

Thyroid function tests ¹

To assess for hypothyroidism, particularly in those w/poor growth velocity

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

To incl genetic counseling

Family supports/resources

Assess need for:

Community or online resources such as Parent To Parent;
Social work involvement for parental support.

From: Aymé-Gripp Syndrome

GeneReviews^® [Internet].

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

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

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.