Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia
SpecialtyMedical genetics 

Spondyloepiphyseal dysplasia congenita (SEDc, also known as Spranger-Wiedemann disease)[1] is a type of autosomal dominant dwarfism caused by mutations in the COL2A1 gene.[1] Spondyloepiphyseal dysplasia congenita is present in 1 in 100,000 births,[1] though many children are stillborn, premature, or die shortly after birth.[2] This disorder is characterized by delayed ossification, particularly of the spine and the proximal ends of long bones (epiphyses).[1]

Presentation

Phenotypes of spondyloepiphyseal dysplasia congenita vary.[2] Defining features include short stature, with a short spine and neck, a barrel chest, and normal-sized hands and feet.[1][2] This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Adult height ranges from 0.9 meters (35 inches) to just over 1.4 meters (55 inches). Curvature of the spine (such as kyphoscoliosis and lordosis) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life. Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded. Some infants are born with a cleft palate. Severe nearsightedness (high myopia) is sometimes present, as are other eye problems that can affect vision such as detached retinas. About one-quarter of people with this condition have mild to moderate hearing loss.[3]

Causes

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.[3] The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

Management

There is no treatment for the underlying condition. Supportive/symptomatic treatment is based on the traits present in each person with the condition.[4]

Notable people

References

  1. ^ a b c d e "Spondyloepiphyseal Dysplasia Congenita", Abnormal Skeletal Phenotypes, Berlin/Heidelberg: Springer-Verlag, pp. 887–892, 2005, doi:10.1007/3-540-30361-8_109, ISBN 978-3-540-67997-4, retrieved 2026-02-20{{citation}}: CS1 maint: work parameter with ISBN (link)
  2. ^ a b c Jones, Judith; Arai, Lynda; Stickles, Eric; Averill, Lauren W. (2025), Theroux, Mary C. (ed.), "Spondyloepiphyseal Dysplasia", Anesthesia Care of Patients with Skeletal Dysplasia, Cham: Springer Nature Switzerland, pp. 43–60, doi:10.1007/978-3-031-92501-6_6, ISBN 978-3-031-92500-9, retrieved 2026-02-20{{citation}}: CS1 maint: work parameter with ISBN (link)
  3. ^ a b Reference, Genetics Home. "Spondyloepiphyseal dysplasia congenita". Genetics Home Reference. Retrieved 20 March 2020. This article incorporates text from this source, which is in the public domain.
  4. ^ "Spondyloepiphyseal Dysplasia, Congenital". NORD (National Organization for Rare Disorders). Retrieved 20 March 2020.
  • Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6

Further reading

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