Bones and joints

3

Kyphoscoliosis, Osteosarcoma, Weak and brittle bones (osteoporosis)

Arms and legs

2

Short foot, Small hand

Brain and nerves

2

Intellectual disability, Depressed nasal bridge

Head and neck

2

High palate, Mandibular prognathia

Pregnancy and birth

1

Congenital hip dislocation

Growth and development

1

Short stature

Muscles

1

Dermal atrophy

Hormones

1

Hypogonadism

Skin

Dermatologic eval

—

Skeletal

Baseline skeletal radiographic exam by age 5 yrs to identify underlying skeletal abnormalities; baseline DXA scan to assess bone mineral density if indicated

Obtain DXA if osteopenia is seen on skeletal survey or there is a history of fractures.

Hematologic

Baseline CBC w/differential

Individuals w/clinical evidence of anemia or cytopenias should be evaluated by CBC bone marrow biopsy if clinically indicated.

Vision

Ophthalmologic exam to evaluate for cataracts

—

Other

Consultation w/clinical geneticist /or genetic counselor

CBC = complete blood count; DXA = dual-energy x-ray absorptiometry Treatment of Manifestations Table 4.

Treatment of Manifestations in Individuals with Rothmund-Thomson Syndrome (RTS) Manifestation/Concern

Treatment

Considerations/Other

Skin rash

Pulsed dye laser has been used for cosmetic management of the telangiectatic component of rash.

—

Hematologic concerns

Individuals w/hematologic abnormalities should be treated in standard manner by hematologist familiar w/RTS.

—

Cataract

Visually significant cataracts require surgical removal.

—

Cancer

Affected individuals who develop cancer should be treated per standard chemotherapy /or radiation regimens.

Doses should be modified only if individual experiences significantly toxicities. Surveillance Table 5.

Recommended Surveillance for Individuals with Rothmund-Thomson Syndrome (RTS) System/Concern

Evaluation

Frequency

General

Eval by physician familiar w/RTS for overall health maintenance monitoring of growth

Annual

Skin

Eval by dermatologist w/close monitoring of skin for lesions w/unusual color or texture, as individuals w/RTS are at risk for skin cancers

Annually or more frequently if indicated Eyes (for those

w/o cataracts)

Eye exams for screening purposes

Annually

Skeletal1

Skeletal radiographic exam

Promptly if clinical suspicion of osteosarcoma is present (incl bone pain, swelling, or enlarging lesion on a limb) due to the high risk for this potentially lethal malignancy 1. Surveillance screening for osteosarcoma is not routinely recommended for individuals with RTS .

General

Eval by physician familiar w/RTS for overall health maintenance monitoring of growth

Annual

Skin

Eval by dermatologist w/close monitoring of skin for lesions w/unusual color or texture, as individuals w/RTS are at risk for skin cancers

Annually or more frequently if indicated Eyes (for those

w/o cataracts)

Eye exams for screening purposes

Annually

Skeletal1

Skeletal radiographic exam

Promptly if clinical suspicion of osteosarcoma is present (incl bone pain, swelling, or enlarging lesion on a limb) due to the high risk for this potentially lethal malignancy 1. Surveillance screening for osteosarcoma is not routinely recommended for individuals with RTS .