Table 8. [Geleophysic Dysplasia: Recommended Surveillance]. - GeneReviews®

System/Concern/Specialty	Evaluation	Frequency by Age
General / Primary care	Assessment of growth & motor & speech development Assessment for recurrent ear infections, serous otitis media, obstructive sleep apnea, & asthma Clinical examination incl heart, lungs, & liver size	Age ≤6 mos: monthly Age 6 mos-2 yrs: every 3 mos Age 2-3 yrs: every 6 mos	Yearly
Clinical genetics	Clinical exam w/clinical geneticist Genetic counseling incl information re support organizations	Every 6 mos	Yearly	At ages 11, 13, & 17 yrs	Every 2-3 yrs
Skeletal	Orthopedic/physiotherapy eval for joint limitation Radiographs for hip dysplasia	Yearly	Every 2 yrs
Neurologic	EMG to assess for carpal tunnel syndrome	--	Every 2 yrs
Cardiology	Eval w/cardiologist incl EKG & echocardiography to assess for valvular valve defects & pulmonary hypertension	Yearly	At ages 6 & 9 yrs	At ages 11, 13, & 17 yrs	Every 5 yrs
Pulmonary	Eval w/pulmonologist for restrictive lung disease, obstructive sleep apnea, & asthma	Yearly	At ages 6 & 9 yrs	At ages 11, 13, & 17 yrs	Every 5 yrs
Thoracic CT scan	--	At age 6 yrs	--
Polysomnography	As needed
ENT	Flexible endoscopy (w/rigid endoscopy as needed) to assess for upper airway obstruction & adenoidal hypertrophy Audiogram for conductive deafness	Yearly	At age 6 yrs	At ages 11 & 13 yrs	Every 5 yrs
Eyes	Ophthalmology exam for refractive error (incl astigmatism) & corneal thickening Funduscopic exam for papilledema	At ages 9 mos & 2 yrs	At age 6 yrs	As needed

System/Concern/Specialty

Evaluation

Frequency by Age

Birth-3 yrs

3-10 yrs

11-18 yrs

>18 yrs

General / Primary care

Assessment of growth & motor & speech development
Assessment for recurrent ear infections, serous otitis media, obstructive sleep apnea, & asthma
Clinical examination incl heart, lungs, & liver size

Age ≤6 mos: monthly
Age 6 mos-2 yrs: every 3 mos
Age 2-3 yrs: every 6 mos

Yearly

Clinical genetics

Clinical exam w/clinical geneticist
Genetic counseling incl information re support organizations

Every 6 mos

Yearly

At ages
11, 13, & 17 yrs

Every 2-3 yrs

Skeletal

Orthopedic/physiotherapy eval for joint limitation
Radiographs for hip dysplasia

Yearly

Every 2 yrs

Neurologic

EMG to assess for carpal tunnel syndrome

Every 2 yrs

Cardiology

Eval w/cardiologist incl EKG & echocardiography to assess for valvular valve defects & pulmonary hypertension

Yearly

At ages 6 & 9 yrs

At ages 11, 13, & 17 yrs

Every 5 yrs

Pulmonary

Eval w/pulmonologist for restrictive lung disease, obstructive sleep apnea, & asthma

Yearly

At ages 6 & 9 yrs

At ages 11, 13, & 17 yrs

Every 5 yrs

Thoracic CT scan

At age 6 yrs

Polysomnography

As needed

ENT

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

Yearly

At age 6 yrs

At ages 11 & 13 yrs

Every 5 yrs

Eyes

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

At ages 9 mos & 2 yrs

At age 6 yrs

As needed

From: Geleophysic Dysplasia

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

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