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

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

Also known as Larson syndrome autosomal recessive type, 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?

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 onto each of their children.

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

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 are 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 does someone get tested for Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects?

The initial testing for Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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Paula and Bobby
Parents of Lillie

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