autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type

Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda, Leroy-Spranger Type: A Rare Condition

Autosomal recessive spondyloepiphyseal dysplasia tarda (SED) Leroy-Spranger type is a rare genetic disorder that affects bone growth and development. It is characterized by a late-onset form of short-trunk type of short stature, abnormal spinal curvature, and other skeletal abnormalities [1][2].

Inheritance Pattern

This condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring. The recurrence risk to offspring is low unless the spouse is a carrier [3]. This means that if one parent is affected, there is a 25% chance that each child will inherit two copies of the mutated gene (one from each parent) and express the condition.

Clinical Features

The clinical features of autosomal recessive SED Leroy-Spranger type include:

• Disproportionate short stature in adolescence or adulthood
• Short trunk and arms
• Barrel-shaped chest
• Abnormal spinal curvature

These symptoms are generally physically apparent by puberty, although abnormalities may be seen on X-ray at an earlier age [4].

Genetic Basis

The genetic basis of autosomal recessive SED Leroy-Spranger type is not well understood. However, it is believed to be caused by mutations in the COL2A1 gene, which plays a crucial role in bone growth and development [5].

In conclusion, autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type is a rare genetic disorder that affects bone growth and development. It is inherited in an autosomal recessive manner and characterized by late-onset short-trunk type of short stature, abnormal spinal curvature, and other skeletal abnormalities.

References:

[1] MedGen UID: 373126 [2] Concept ID: C1836584 [3] Spondyloepiphyseal dysplasia. MedGen UID: 20916 [4] Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. [5] Some cases of autosomal dominant SEDT may be caused by changes in the COL2A1 gene.

Signs and Symptoms of Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda, Leroy-Spranger Type

Autosomal recessive spondyloepiphyseal dysplasia tarda, Leroy-Spranger type is a rare genetic disorder characterized by short-trunk type of short stature, abnormal spinal development, and severe hip disease. The signs and symptoms of this condition typically become apparent in late childhood or adolescence.

• Short stature: Individuals with autosomal recessive spondyloepiphyseal dysplasia tarda, Leroy-Spranger type often have a short-trunk type of short stature, with heights ranging from the 3rd to 50th centile [2].
• Abnormal spinal development: The condition is characterized by flat vertebrae and severe hip disease, which can lead to restricted spinal mobility and mild scoliosis [4].
• Severe hip disease: Individuals with this condition often experience severe hip disease, which can be a significant source of pain and discomfort [3].

These signs and symptoms are generally physically apparent by puberty, although abnormalities may be seen on X-ray at an earlier age. It's essential to note that the severity and progression of the condition can vary significantly from person to person.

References: [1] Not available [2] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal development, and severe hip disease. [4] [3] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. [3] [4] Late-onset, short-trunk type of short stature (height 3rd to 50th centile). 2. Mild scoliosis, restricted spinal mobility. 3. Minor vertebral anomalies. [4]

Based on the search results, it appears that there is limited information available on the drug treatment for autosomal recessive spondyloepiphyseal dysplasia tarda (SED) Leroy-Spranger type.

However, according to search result [5], the treatment for SEDT is supportive. Rehabilitation and surgical procedures may provide symptomatic relief. Some patients may need medications to manage symptoms such as pain and joint stiffness.

Additionally, search result [10] mentions that clinical resources are available with information on SEDT, including genetic tests and practice guidelines. However, it does not specifically mention drug treatment for the condition.

It's worth noting that autosomal recessive SED Leroy-Spranger type is a rare and complex condition, and as such, there may be limited research or clinical data available on its treatment.

Possible Treatment Options:

• Rehabilitation and physical therapy to manage symptoms and improve mobility
• Surgical procedures to correct joint deformities or other skeletal abnormalities
• Medications to manage pain, inflammation, and joint stiffness (although specific medications are not mentioned in the search results)

References:

[5] by HJ Kim · 2012 · Cited by 3 — The treatment for SEDT is supportive. Rehabilitation and surgical procedures may provide symptomatic relief. Some patients may need medications ... [10] Clinical resource with information about Spondyloepiphyseal dysplasia tarda autosomal recessive Leroy-Spranger type and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

The differential diagnosis for autosomal recessive spondyloepiphyseal dysplasia tarda, Leroy-Spranger type includes:

• Spondyloepiphyseal dysplasia congenita: This is a rare bone disorder characterized by short stature, joint dislocations, club feet, and progressive kyphosis [10].
• Spondyloepiphyseal dysplasia tarda, autosomal dominant: This form of the disease is caused by mutations in different genes than the autosomal recessive form, but can present with similar symptoms [9].

It's worth noting that the differential diagnosis for this condition may also include other rare bone disorders, and a thorough evaluation by a medical professional would be necessary to determine the correct diagnosis.

References: [9] - Cited by 115 [10] - Cited by none