What is Arthrogryposis, Distal, Type 8 (DA8)?
Arthrogryposis, Distal, Type 8, is a very rare genetic condition that has been identified in just 50 fetuses due that is lethal.
The syndrome is part of a group of disorders that present with multiple congenital contractures.
This syndrome is also known as:
Multiple Pterygium Syndrome, Lethal Type; Autosomal Dominant Pterygium Syndrome; Multiple, Autosomal Dominant
What gene change causes Arthrogryposos, Distal, Type 8 (DA8)?
Mutations to the CHRNG gene are responsible for causing the syndrome. It is mainly 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 Arthrogryposis, Distal, Type 8?
Two major symptoms usually present before birth: webbing of the skin between the joints and a lack of muscle movement.
Unique facial features of the syndrome include a small jaw, long philtrum, downward slanting eyes, epicanthal folds, drooping eyelids, low-set ears, and a cleft palate.
The condition also presents with a small stature, defects in the vertebrae, contractures of the joints, webbing of the neck, permanently bent fingers, and webbing between the fingers and club feet.
The curvature of the spine and skeletal anomalies are also common. All of these physical features may also affect movement.
Possible clinical traits/features:
Cleft palate, Short stature, Hemivertebrae, Hip contracture, Elbow flexion contracture, Craniosynostosis, Arthrogryposis multiplex congenita, Downslanted palpebral fissures, Autosomal dominant inheritance, Short neck, Low-set, posteriorly rotated ears, Knee flexion contracture, Multiple pterygia, Camptodactyly, Scoliosis, Spondylolisthesis, Vertebral fusion, Ptosis.
How is it diagnosed?
To find out if someone has a diagnosis of Arthrogryposis, Distal, Type 8 (DA8), 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.
