Spondylo-dysplastic ehlers-danlos syndrome Q79.6

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected (Brinckmann J 2018).

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

The very rare spondylo-dysplastic EDS is characterized by an autosomal recessive inheritance. It is triggered by mutations in the genes B4GALT7, B3GALT6 and SLC39A13. Affected individuals are often small and show muscular hypotension (Brady et al. 2017; Giunta C et al. 2008). It is not uncommon for the joints to be markedly hyperextensible (Caraffi SG et al. 2019).

Major symptoms are:

• Skeletal system: Progressive dwarfism in childhood, bending of the extremities,
• Neuromuscular system: Muscular hypotension (may already be congenital)

Minor symptoms

• Skin: Hyperelasticity, soft pasty translucent skin,
• Skeletal system: Pes planus, osteopenia
• Neuromuscular system: delayed motor and cognitive development

Detection of the genetic defect;

major symptom dwarfism +

Major symptom muscular hypotension +

Characteristic radiological changes of the bones +

Three other minor symptoms

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