Table 5.

Trichorhinophalangeal Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Ectodermal Dental exam for supernumerary teeth
Skeletal
  • Measurement of height
  • Radiographs of hands, feet, pelvis, & hips, if joint pain, swelling, &/or limited mobility are present
In those w/osteopenia on radiographs, further investigation for low bone mineral density may be warranted (e.g., DXA scan, serum calcium, phosphorus, magnesium, & referral to endocrinologist for mgmt of bone health)
Assessment of osteochondromas by orthopedic specialist for evidence of functional limitationIn those w/TRPS II
Development Developmental assessmentIn younger persons w/clinical diagnosis of TRPS (of unknown molecular cause) & in all children w/TRPS II
Endocrinologic Eval for GH deficiencyIn those w/short stature
Cardiac Cardiac eval incl echocardiogramAt diagnosis
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of TRPS to facilitate medical & personal decision making

DXA = dual-energy x-ray absorptiometry; GH = growth hormone; MOI = mode of inheritance; TRPS = trichorhinophalangeal syndrome

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Trichorhinophalangeal Syndrome

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