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Kniest dysplasia

Description

Kniest Dysplasia: A Rare Skeletal Disorder

Kniest dysplasia is a rare genetic disorder that affects the growth and development of bones, leading to short stature (dwarfism) and other skeletal abnormalities. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene [7][8].

Characteristics of Kniest Dysplasia

Babies born with Kniest dysplasia often have a short trunk and shortened arms and legs, along with craniofacial anomalies such as flat faces, bulging eyes, and cleft palate [2]. As they grow older, they may experience curvature of the spine (kyphoscoliosis) and enlargement of the joints, leading to short trunk dwarfism [3].

Skeletal Abnormalities

Kniest dysplasia is characterized by skeletal anomalies, including disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints. Premature osteoarthritis can also occur, restricting movement [9].

Vision and Hearing Problems

Individuals with Kniest dysplasia often experience problems with vision and hearing, which can be attributed to the abnormal growth of bones in the skull and ears [1][4].

Genetic Inheritance

Kniest dysplasia is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated COL2A1 gene is sufficient to cause the condition. It is thought to carry an autosomal dominant inheritance [15].

Additional Characteristics

  • hearing problems
  • skeletal abnormalities
  • short stature (dwarfism)
  • curvature of the spine (kyphoscoliosis)
  • enlargement of the joints
  • premature osteoarthritis
  • vision problems

Signs and Symptoms

Common Signs and Symptoms of Kniest Dysplasia

Kniest dysplasia, a type of skeletal dysplasia, can manifest in various ways, affecting different aspects of an individual's health. Here are some common signs and symptoms associated with this condition:

  • Short stature (dwarfism): Individuals with Kniest dysplasia often experience short stature, which is one of the most noticeable characteristics of this condition [3].
  • Enlarged knees: The knees may appear enlarged or prominent due to the abnormal growth of bones in the knee joint [1].
  • Cleft palate: A cleft palate, where there's a gap in the roof of the mouth, can be present at birth or develop later in life [1].
  • Scoliosis: Scoliosis, a curvature of the spine, is another common sign and symptom of Kniest dysplasia [2].
  • Hip dysplasia: The hip joints may not form properly, leading to hip dysplasia [2].
  • Vision problems: Severe nearsightedness (myopia) and other eye problems are common in individuals with Kniest dysplasia [4][9].
  • Hearing loss: Hearing loss can also be a symptom of this condition [5][7].
  • Flat feet: Flat feet, where the arches of the feet do not form properly, may be present [5][7].
  • Knock-knees: Knock-knees, where the knees touch each other when the legs are straightened, can also occur [5][7].
  • Curved spine: A curved spine, which can lead to scoliosis, is another possible sign and symptom of Kniest dysplasia [6].

It's essential to note that not everyone with Kniest dysplasia will exhibit all these signs and symptoms. The severity and presence of these characteristics can vary from person to person.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Additional Symptoms

  • Scoliosis
  • Cleft palate
  • Hearing loss
  • Vision problems
  • Hip dysplasia
  • Flat feet
  • Enlarged knees
  • Knock-knees
  • Curved spine
  • short stature

Diagnostic Tests

Kniest dysplasia can be diagnosed through various tests, including:

  • Prenatal tests: Amniocentesis and CVS (Chorionic Villus Sampling) can identify the known Kniest mutations [1].
  • Sonogram: A sonogram at the end of the second trimester can identify some of the bone abnormalities associated with Kniest dysplasia [1].
  • Clinical evaluation: The diagnosis is mainly based on clinical evaluation and radiographic examination [4].
  • Radiographic examination: Radiographs show signs of a spondyloepiphyseal dysplasia with initially normal epiphyses, but later showing irregularities in the metaphyses and diaphyses [4].
  • Genetic testing: Genetic testing can confirm the diagnosis by identifying the gene change associated with Kniest dysplasia. This can be done through various methods such as Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA), or next-generation sequencing (NGS) tests [6][9].
  • Genetic testing registry: The Genetic Testing Registry: Kniest dysplasia provides information on genetic testing for this condition [7].

It's worth noting that the diagnosis of Kniest dysplasia is typically made by a team of specialists, including pediatricians, radiologists, and geneticists.

Additional Diagnostic Tests

  • Clinical evaluation
  • Genetic testing
  • Radiographic examination
  • Sonogram
  • Prenatal tests

Treatment

Treatment Options for Kniest Dysplasia

Kniest dysplasia, a rare genetic disorder affecting bone growth, requires a multi-faceted treatment approach to manage its symptoms and complications. While there is no cure for the condition, various drug treatments can help alleviate discomfort and prevent further deterioration.

  • Pain Management: Nonsteroidal anti-inflammatory drugs (NSAIDs) or other analgesics are often prescribed to manage pain associated with joint contractures and degenerative arthritis [10].
  • Skeletal Dysplasia Treatment: Treatment for Kniest dysplasia focuses on symptom management, including stabilization of lax joints, which is typically achieved through surgical interventions [1].
  • Targeted Drug Therapies: Emerging targeted drug therapies in skeletal dysplasias may offer new treatment options for patients with Kniest dysplasia [12].

Important Considerations

It's essential to note that each individual's experience with Kniest dysplasia can vary greatly, and treatment plans should be tailored to address specific needs. A multidisciplinary team of healthcare professionals, including genetic counselors, orthopedic specialists, and ophthalmologists, can provide comprehensive care for patients with this condition.

References

[1] NORD - National Organization for Rare Disorders (no specific reference number) [10] Kniest Dysplasia Treatment Options (no specific reference number) [12] Emerging targeted drug therapies in skeletal dysplasias. 27155200. Am J Med Genet A.

Recommended Medications

  • Pain Management: NSAIDs or other analgesics
  • Skeletal Dysplasia Treatment: Surgical interventions for lax joints
  • drug

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential diagnosis of Kniest dysplasia involves distinguishing it from other type 2 collagenopathies that cause disproportionate short stature, such as spondyloepiphyseal dysplasia congenita and dyssegmental dysplasia.

  • Spondyloepiphyseal dysplasia congenita is a more common condition that can present with similar symptoms to Kniest dysplasia, including short stature and skeletal abnormalities.
  • Dyssegmental dysplasia, another type of collagenopathy, can also cause disproportionate short stature and skeletal deformities, making it a potential differential diagnosis for Kniest dysplasia.

Key differences between Kniest dysplasia and these conditions include:

  • Skeletal anomalies: Kniest dysplasia is characterized by platyspondyly with anterior wedging and coronal clefting of the lumbar vertebral bodies, whereas spondyloepiphyseal dysplasia congenita may present with a more normal spine.
  • Differential diagnosis: Dyssegmental dysplasia can be distinguished from Kniest dysplasia by its characteristic "dumbbell" deformity of the tubular bones.

Other conditions that may be considered in the differential diagnosis of Kniest dysplasia include:

  • Hypochondrogenesis, a condition characterized by short-limb dwarfism, swelling of the body and face, widely spaced eyes (hypertelorism), and a flat face.
  • Metatropic dysplasia, another type of collagenopathy that can cause skeletal deformities and short stature.

Diagnosis of Kniest dysplasia typically involves a combination of clinical assessment, radiographic imaging, and genetic testing.

Citations: 1. [2] - "Kniest dysplasia should be differentiated from the other type 2 collagenopathies that cause disproportionate short stature..." 3. [4] - "Symptoms of the following disorders can be similar to those of Kniest dysplasia." 5. [7] - "Differential diagnosis between dysostosis enchondralis and chondrodystrophy." 9. [10] - "Radiographically, Kniest dysplasia, COL2A1-related, presents with pronounced abnormalities of bone modeling..." 11. [13] - "Diagnosis of Kniest syndrome includes: clinical assessment, radiographic imaging, and genetic testing."

Additional Information

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