spondyloepiphyseal dysplasia Nishimura type

Spondyloepiphyseal dysplasia Nishimura type, also known as SEDN, is a rare genetic disorder characterized by various physical and skeletal abnormalities. The condition is typically evident at birth or during early childhood.

Key Features:

• Disproportionate short stature with short limbs
• Small hands and feet
• Midface hypoplasia with small nose
• Mild spondylar dysplasia (abnormal development of the spine)
• Delayed epiphyseal ossification of the hip and knee (slowed growth of bone tissue at the joints)
• Severe brachydactyly with cone-shaped phalangeal epiphyses (short fingers with abnormal bone formation)

Additional Characteristics:

• Craniosynostosis (premature fusion of bones in the skull)
• Cataracts
• Cleft palate
• Intellectual deficit

These features can vary in severity and may become more apparent as the individual grows. SEDN is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.

References:

• [1] Grigelioniene et al., 2019 - Characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose.
• [4] The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface ...
• [11] The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose.
• [14] The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose.

Spondyloepiphyseal dysplasia Nishimura type, also known as SEDN, is a rare genetic disorder that affects the growth and development of bones. The specific signs and symptoms of this condition can vary from person to person, but some common characteristics include:

• Disproportionate short stature: Individuals with SEDN often have short limbs, small hands and feet, and a trunk that is relatively normal in size [2][9].
• Skeletal abnormalities: The condition affects the growth of bones, leading to skeletal deformities such as curved lower back (lordosis) or a spine that curves to the side (scoliosis) [6].
• Craniosynostosis: This is a rare condition where the bones of the skull fuse together prematurely, which can lead to problems with brain development and function [3][5].
• Cataracts: Clouding of the lens in the eye that affects vision [3][5].
• Cleft palate: A congenital defect in the roof of the mouth that can affect speech and eating [3][5].
• Intellectual deficit: Some individuals with SEDN may experience cognitive impairment or intellectual disability [3][5].

It's essential to note that each person with SEDN may exhibit a unique combination of these symptoms, and not everyone will have all of them. The severity and progression of the condition can also vary significantly from one individual to another.

References:

[2] - The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, ... [3] - Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit ... [5] - Description. Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and ... [6] - Jul 1, 2008 — Affected individuals may have an abnormally curved lower back (lordosis ) or a spine that curves to the side (scoliosis ). This abnormal spinal ...

Spondyloepiphyseal dysplasia Nishimura type can be diagnosed through various diagnostic tests, including:

• Molecular genetic testing [3]: This test can confirm a diagnosis by detecting mutations in the gene known to cause SEDC. However, it's essential to note that molecular genetic testing may not be available or may have varying levels of sensitivity and specificity depending on the laboratory and time.
• Radiologic examination [2][10][11]: Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses. These findings can help diagnose SEDN.
• Clinical evaluation [6][9]: A thorough clinical evaluation, including a detailed medical history and physical examination, can also aid in diagnosing SEDN.

It's worth noting that the diagnosis of spondyloepiphyseal dysplasia Nishimura type may involve a combination of these diagnostic tests, as well as other evaluations. A qualified healthcare professional should be consulted for an accurate diagnosis and proper management.

References: [2] - Context result 2 [3] - Context result 3 [6] - Context result 6 [9] - Context result 9 [10] - Context result 10 [11] - Context result 11

Based on the search results, it appears that there is no specific drug treatment for Spondyloepiphyseal Dysplasia (SED) Nishimura type. However, management and prevention of degenerative joint disease and ocular complications are crucial in patients with this condition.

• Management of SED involves a multidisciplinary approach to improve and prevent complications such as degenerative joint disease and ocular problems [12].
• Orthopedic and other surgical procedures may be indicated in patients with SED, but these can be performed safely in most cases [6].
• There is currently no curative treatment for SEDC (congenital type), and management focuses on prevention of degenerative joint disease and ocular complications [5].

It's worth noting that the information provided on this topic is limited, and further research may be necessary to determine the best course of treatment for patients with SED Nishimura type.

References:

[5] by P De Kinderen · 2023 · Cited by 1 — There is currently no curative treatment for SEDC. Management is mainly focused on prevention of degenerative joint disease and ocular complications such as ... [6] Oct 26, 2023 — Orthopedic and other surgical procedures are indicated in patients with SED (see Treatment). Although these can be performed safely in most ... [12] Spondyloepiphyseal Dysplasia is a rare congenital disorder most commonly caused by a COL2A1 mutation leading to abnormal Type II collagen synthesis. Patients present with dwarfism, flattened faces, scoliosis, and in some cases gait instability as a result of cervical myelopathy. ... Treatment involves a multidisciplinary approach to improve and ...

The differential diagnosis for Spondyloepiphyseal Dysplasia (SED) Nishimura type involves considering various disorders that share similar characteristics.

• The major differential diagnosis is Sponastrime dysplasia, which is inherited in an autosomal recessive manner and characterized by severe platyspondyly [6].
• Other conditions to be considered include Type II collagenopathies, such as the SED congenita group and the Kniest-Stickler syndrome [7].

It's worth noting that a comprehensive diagnosis of SED Nishimura type requires a thorough evaluation of clinical features, radiological findings, and genetic testing.

References: [6] - The major differential diagnosis is sponastrime dysplasia. This is inherited in an autosomal recessive manner. Radiologically there is severe platyspondyly in ... [7] - by A Handa · 2021 · Cited by 9 — Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler ...