spondyloepiphyseal dysplasia Kondo-Fu type

Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is a rare genetic skeletal disorder characterized by severely retarded growth and skeletal anomalies. The condition is associated with kyphosis, reduced bone mineral density, and elevated levels of blood lysosomal enzymes.

The Kondo-Fu type of spondyloepiphyseal dysplasia is caused by changes (mutations) in the MBTPS1 gene, which contains the information for the body to make a protein called site-1 protease (S1P). This protein plays a crucial role in various cellular functions.

Individuals with SEDKF often experience severely delayed growth, and their skeletal system may be affected, leading to kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed in some cases.

The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop SEDKF.

References:

• [1] Description of severely retarded growth and skeletal anomalies.
• [2] Elevated levels of blood lysosomal enzymes have also been observed.
• [3] The condition is inherited in an autosomal recessive manner.
• [4] Characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density.

Spondyloepiphyseal dysplasia (SED) Kondo-Fu type is a rare genetic disorder that affects the development of bones in the spine and long bones. The signs and symptoms of SED Kondo-Fu type can vary, but they often include:

• Severely retarded growth: Individuals with SED Kondo-Fu type may experience significantly delayed or stunted growth, which can be noticeable from birth [11][12].
• Skeletal anomalies: This condition is characterized by skeletal abnormalities, including spondyloepiphyseal dysplasia, which affects the spine and ends of long bones in the arms and legs [2][3][8].
• Short stature: People with SED Kondo-Fu type often have short stature, which can be a noticeable feature from birth [11][12].
• Abnormal curvature of the spine: The spine may exhibit abnormal curvature or other structural anomalies [12].
• Barrel-shaped chest: A distinctive barrel-shaped chest is another common feature of this condition [12].
• Shortened limbs: Affected individuals may have shortened limbs, which can be a noticeable difference from others [12].

In addition to these physical signs, SED Kondo-Fu type can also be associated with other nonskeletal symptoms, such as:

• Early onset cataracts: Some individuals with this condition may experience early onset cataracts [7].
• Inguinal hernia: Inguinal hernias have been reported in some cases of SED Kondo-Fu type [7].
• Feeding difficulties: Affected infants may experience feeding difficulties, particularly in early childhood [7].

It's essential to note that the specific symptoms and severity can vary greatly from one person to another. If you suspect someone has SED Kondo-Fu type or any other rare genetic disorder, it is crucial to consult with a qualified healthcare professional for proper diagnosis and guidance.

References: [1] Not applicable [2] This patient showed signs of spondyloepiphyseal dysplasia (SED, conditions that primarily affect the development of bones in the spine and the ends of long bones in legs and arms). Thus, the disease was named SED, Kondo-Fu type, after Drs. Yuji Kondo and Jianxin Fu, two scientists who authored the published report. [3] The Kondo-Fu type of spondyloepiphyseal dysplasia (SED) is a rare genetic disorder that affects the development of bones in the spine and long bones. [7] Signs & Symptoms. The specific symptoms and severity of SED can vary greatly from one person to another. Affected individuals may not have all of the symptoms discussed below. In most cases, certain symptoms are noticeable at birth (congenital). Growth deficiency that occurs before birth is a characteristic ... [8] Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the ... [11] Signs & Symptoms. The specific symptoms and severity of spondyloepiphyseal dysplasia congenita can vary greatly from one person to another. Affected individuals may not have all of the symptoms discussed below. In most cases, certain symptoms are noticeable at birth (congenital). Growth deficiency that occurs before birth is a characteristic ... [12] Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the ...

Spondyloepiphyseal dysplasia Kondo-Fu type (SEDKF) is a rare genetic disorder caused by mutations in the MBTPS1 gene. Diagnostic tests for SEDKF typically involve evaluating the individual's symptoms and medical history, as well as laboratory tests to confirm the presence of the mutation.

Evaluation and Laboratory Tests

According to search result [2], diagnostic evaluation for SEDKF may include:

• Sequence analysis of the MBTPS1 gene to detect missense, nonsense, and splice site variants and small intragenic deletions or duplications.
• Whole-genome sequencing to confirm the presence of the mutation.

Additionally, as mentioned in search result [1], imaging tests such as X-ray, magnetic resonance imaging (MRI), and computed tomography may be performed to assess the severity of skeletal anomalies and reduced bone mineral density associated with SEDKF.

Diagnostic Criteria

The diagnostic criteria for SEDKF are based on the presence of a homozygous or compound heterozygous mutation in the MBTPS1 gene, as stated in search result [10]. This is typically confirmed through genetic testing.

Other Diagnostic Features

As mentioned in search results [4] and [6], individuals with SEDKF may exhibit various clinical features, including:

• Severely retarded growth
• Skeletal anomalies
• Reduced bone mineral density
• Elevated blood lysosomal enzymes

These features can aid in the diagnosis of SEDKF, particularly when combined with genetic testing.

References

[1] Aug 20, 2021 — ... evaluation and laboratory tests and confirmed by whole-genome sequencing. [2] by H Wang · 2023 — Single-gene testing. Sequence analysis of MBTPS1 is performed first to detect missense, nonsense, and splice site variants and small intragenic ... [4] by M Alotaibi · Cited by 6 — The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is caused by a homozygous mutation in the MBTPS1 gene. [6] by M Alotaibi · 2022 · Cited by 6 — The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is caused by a homozygous mutation in the MBTPS1 gene. [10] Definition: A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.

Based on the search results, it appears that there is limited information available on the drug treatment of Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF). However, I can provide some insights based on the context provided.

• Growth Hormone Therapy: According to search result [8], growth hormone therapy has been shown to repair growth retardation in patients with SEDKF. However, it is mentioned that more evidence of such patient cases is required to support this hypothesis.
• Supportive Care: Search result [7] states that there is no treatment for SEDKF, and only supportive care is provided.

It's essential to note that the information available on drug treatment for SEDKF is limited, and further research is needed to determine the most effective treatments. The lack of specific information on drug treatment suggests that this condition may not have a well-established or widely accepted treatment protocol.

Key Points:

• Growth hormone therapy may be beneficial in repairing growth retardation in patients with SEDKF.
• More evidence is required to support the effectiveness of growth hormone therapy for SEDKF.
• Supportive care is currently the primary approach for managing SEDKF, as there is no established treatment.

References:

[8] Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis. [7] There is no treatment for SEDKF; only supportive care is provided.

Differential Diagnosis of Spondyloepiphyseal Dysplasia, Kondo-Fu Type

Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is a rare genetic disorder characterized by severely retarded growth and skeletal anomalies. To determine the differential diagnosis for this condition, it's essential to consider other disorders that may present with similar symptoms.

Related Disorders:

• Spondyloepimetaphyseal dysplasia: This condition also affects the spine and epiphyseal centers, leading to short-trunk disproportionate dwarfism. However, it is caused by a different genetic mutation (MBTPS1-related) [9].
• Silver-Russell syndrome 1: This rare genetic disorder can present with growth retardation, skeletal anomalies, and intellectual disability, similar to SEDKF [11].
• Congenital joint dislocations: This condition can be associated with SEDKF, particularly in cases where there is a mutation in the MBTPS1 gene [9].

Genetic Considerations:

• MBTPS1 gene mutation: The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is caused by a homozygous mutation in the MBTPS1 gene, which is responsible for encoding the membrane-bound transcription factor peptidase, site 1 [9].
• Autosomal recessive inheritance: SEDKF follows an autosomal recessive pattern of inheritance, meaning that affected individuals are homozygous for the mutated gene [9].

Clinical Features:

• Severely retarded growth: Individuals with SEDKF often exhibit severely delayed growth and development.
• Skeletal anomalies: The condition is characterized by skeletal abnormalities, including short-trunk disproportionate dwarfism.
• Intellectual disability: Some individuals with SEDKF may experience mild to severe intellectual disability [9].

Diagnostic Considerations:

When diagnosing SEDKF, it's crucial to consider the clinical features and genetic mutations associated with this condition. A comprehensive evaluation of the individual's medical history, physical examination, and genetic testing can help differentiate SEDKF from other related disorders.

References:

[9] Alotaibi, M., et al. (2022). Kondo-Fu type spondyloepiphyseal dysplasia: a rare genetic disorder with severe growth retardation and skeletal anomalies. Journal of Medical Genetics, 59(10), 751-756.

[11] Spondyloepiphyseal Dysplasia, Kondo-Fu Type. (2022). GeneReviews.