Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

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Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Synonyms: EXTL3-related neuro-immuno-skeletal dysplasia syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay variable intellectual disability skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature anomalies of the long bones hands and feet and pelvis platyspondyly cervical malformation and pectus excavatum. Dysmorphic facial features such as coarse face hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures hyperreflexia nystagmus and muscular hypotonia as well as multiple liver cysts.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome?

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Clinical Trials

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