Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD)

What is Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD)?

Also known as Larsen syndrome autosomal recessive type, or JDSCD, this rare disease is a form of skeletal dysplasia that affects the joints of the body mainly. It is a multi-system condition that affects multiple parts of the body.

What gene changes cause Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD)?

Changes to the B3GAT3 gene are responsible for the syndrome.

This syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations on to each of their children.

What are the main symptoms of Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD)?

  • The main symptoms of Larsen syndrome include a short stature. This growth delay usually begins before birth and individuals are shorter than normal at birth.
  • Joint dislocations are another main symptom of the syndrome. These affect the knees and hips of the body mainly. Another symptom connected to the joints is a limited range of motion affecting mainly the large joints of the body.
  • Clubfeet is also common with the syndrome.
  • Kyphosis, a spinal condition leading to a rounding of the back is also associated with the syndrome, and sometimes scoliosis too which is a curving of the spine.
  • Some affected individuals have minor heart valve dysplasia too.

How is it diagnosed?

To find out if someone has a diagnosis of Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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