Chromosomal and Inherited Syndromes

  • Jose M. Ramirez


Pediatric orthopedic pathologies are often associated with a particular genetic or structural/protein defect. These defects account for myriad clinical syndromes seen in clinical practice and are often tested. It is important to recognize those syndromes with vital organ involvement (i.e., heart, kidneys) to ensure appropriate management of comorbid conditions.


VATER Down syndrome Achondroplasia FGR3 Mucopolysaccharidosis 

What is trisomy 21?

Down syndrome

What disease is associated with a deficiency in B-glucocerebrosidase?

Gaucher’s disease

What is the defective protein that leads to achondroplasia?

FGR3 receptor

What is VATER?

Syndromic disorders associated with vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, and renal agenesis

What is inheritance pattern of early onset Charcot-Marie-Tooth disease?

Autosomal dominant

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Jose M. Ramirez
    • 1
  1. 1.Department of Orthopaedic SurgeryAlpert Medical School of Brown UniversityProvidenceUSA

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