Table 4.

MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes: Recommended Evaluations Following Initial Diagnosis

System/ConcernsEvaluationComment
Growth/Nutrition
  • Assess growth.
  • Gastroenterology / nutrition / feeding team eval
Consider eval for gastrostomy tube placement in those w/feeding issues & poor weight gain for height in early childhood
Musculoskeletal
  • Skeletal survey
  • Orthopedist / PT & OT eval
  • DXA scan
Assess for skeletal manifestations incl chest deformity, spine abnormalities, hip dysplasia, & craniosynostosis w/additional imaging as needed
Hernia General surgery eval in those w/inguinal hernia
Eyes Ophthalmologic eval to assess for cataract
Development Developmental eval inclu gross & fine motor, speech & language, cognitive & performance, & activities of daily living
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of MBTPS1-SEMD to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

DXA = dual x-ray absorptiometry; MBTPS1-SEMD = MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

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