Table 6. [Geleophysic Dysplasia: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Skeletal	Assessment of growth Assessment of joint range of motion by an orthopedist/physiotherapist Radiographs for hip dysplasia
Cardiac	Eval by cardiologist incl EKG & echocardiography to evaluate for cardiac valve defect, septal defect, & pulmonary hypertension
Pulmonary	Eval by pulmonologist to assess for obstructive or restrictive lung disease, obstructive sleep apnea, & asthma
Polysomnography	As needed
ENT	Flexible endoscopy (w/rigid endoscopy as needed) to assess for upper airway obstruction & adenoidal hypertrophy
Hearing	Hearing assessment
Eyes	Eye exam for refractive error (incl astigmatism) & corneal thickening Funduscopic exam for papilledema
Hepatic	Assessment of liver size by clinical assessment &/or ultrasound exam
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of geleophysic dysplasia 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

Skeletal

Assessment of growth
Assessment of joint range of motion by an orthopedist/physiotherapist
Radiographs for hip dysplasia

Cardiac

Eval by cardiologist incl EKG & echocardiography to evaluate for cardiac valve defect, septal defect, & pulmonary hypertension

Pulmonary

Eval by pulmonologist to assess for obstructive or restrictive lung disease, obstructive sleep apnea, & asthma

Polysomnography

As needed

ENT

Flexible endoscopy (w/rigid endoscopy as needed) to assess for upper airway obstruction & adenoidal hypertrophy

Hearing

Hearing assessment

Eyes

Eye exam for refractive error (incl astigmatism) & corneal thickening
Funduscopic exam for papilledema

Hepatic

Assessment of liver size by clinical assessment &/or ultrasound exam

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of geleophysic dysplasia 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: Geleophysic Dysplasia

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.