Ehlers-Danlos syndrome, musculocontractural type 2

Ehlers-Danlos syndrome, musculocontractural type 2 is a multisystem connective tissue disorder caused by mutations in the DSE gene. The condition is characterized by abnormalities in connective tissues, leading to features such as poor wound healing, joint hypermobility, and distinctive craniofacial findings. It typically presents in childhood when the characteristic signs become evident. Precise prevalence is not established, and the condition is identified based on clinical and molecular evaluations.

Individuals with Ehlers-Danlos syndrome, musculocontractural type 2 consistently exhibit several characteristic features. Connective tissue findings include poor wound healing, inguinal hernia, atrophic scars, and joint hypermobility. Craniofacial and dental features such as dental crowding, a high palate, protruding ears, frontal bossing, downslanted palpebral fissures, telecanthus, and brachycephaly are common. Other manifestations comprise arachnodactyly, generalized muscle weakness, blue sclerae, delayed gross motor development, an adducted thumb, a patent foramen ovale, bilateral talipes equinovarus, and a persistent open anterior fontanelle. Not all individuals experience every feature, and severity varies considerably.

Ehlers-Danlos syndrome, musculocontractural type 2 is caused by mutations in the DSE gene. The DSE gene encodes an enzyme involved in the production of dermatan sulfate, an important component of the extracellular matrix in connective tissues. This condition follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits two altered copies of the gene, one from each parent. Families are encouraged to seek genetic counseling to understand the implications for family planning and recurrence risk.

Currently, management focuses on supportive care and symptom management as there are no treatments specifically approved for this condition. Care is tailored to the individual and typically involves a multidisciplinary team that emphasizes regular surveillance to detect complications early. Approaches may include physical therapy, pain management, careful wound care, and other supportive interventions. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to provide additional guidance.

Outcomes for individuals with Ehlers-Danlos syndrome, musculocontractural type 2 vary depending on the severity and range of symptoms. With current standards of care, many individuals benefit from a tailored, multidisciplinary approach that addresses complications as they arise. Outcomes described in medical literature continue to evolve as standards of care improve, and treatment plans are continuously refined. Families often find it helpful to connect with specialists familiar with this condition and to consider genetic counseling for ongoing support and guidance.