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brachyolmia-amelogenesis imperfecta syndrome

ICD-10 Codes

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Description

Brachyolmia-amelogenesis imperfecta syndrome, also known as Verloes-Bourguignon syndrome, is a rare genetic disorder that affects the skeletal system and teeth.

Skeletal Dysplasia

This condition is characterized by skeletal dysplasia, which includes:

  • Mild platyspondyly (abnormally small dimension of the vertebrae)
  • Broad ilia (wide pelvis bones)
  • Elongated femoral necks with coxa valga (a deformity of the hip joint)
  • Scoliosis (a curvature of the spine)

These skeletal abnormalities can lead to short-trunked short stature and may cause mobility issues.

Enamel Abnormalities

In addition to skeletal dysplasia, brachyolmia-amelogenesis imperfecta syndrome is also associated with enamel abnormalities in the teeth. This can result in:

  • Discolored or defective teeth
  • Tooth sensitivity
  • Other dental problems

Age of Onset and Inheritance

This condition typically affects individuals from childhood onwards. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.

Prevalence and Diagnosis

The prevalence of brachyolmia-amelogenesis imperfecta syndrome is unknown, as it is a rare condition. Diagnosis is typically made through a combination of clinical evaluation, radiographic imaging, and genetic testing.

References:

  • [4] - Platyspondyly-amelogenesis imperfecta syndrome; Verloes-Bourguignon syndrome.
  • [5] - An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short-trunked short stature, and enamel abnormalities.
  • [6] - In AR brachyolmia-amelogenesis imperfecta syndrome, short-trunked short stature is associated with platyspondyly and enamel abnormalities.

Additional Characteristics

  • Skeletal dysplasia
  • Scoliosis (a curvature of the spine)
  • Tooth sensitivity
  • Mild platyspondyly (abnormally small dimension of the vertebrae)
  • Broad ilia (wide pelvis bones)
  • Elongated femoral necks with coxa valga (a deformity of the hip joint)
  • Discolored or defective teeth
  • Other dental problems

Signs and Symptoms

Brachyolmia-amelogenesis imperfecta syndrome is a rare genetic disorder that affects the development of bones, teeth, and other tissues. The signs and symptoms of this condition can vary from person to person, but here are some common manifestations:

  • Short stature: Individuals with brachyolmia-amelogenesis imperfecta syndrome often have short-trunked short stature [8].
  • Skeletal dysplasia: This condition is characterized by skeletal abnormalities, including platyspondyly (flattened vertebrae), short trunk, scoliosis, broad ilia, and elongated femoral necks with coxa valga [4].
  • Dental anomalies: Brachyolmia-amelogenesis imperfecta syndrome is associated with dental anomalies, such as hypoplastic amelogenesis imperfecta (small, discolored, pitted teeth) [9][10].
  • Corneal clouding: Some individuals may experience corneal clouding, a condition where the clear layer on the surface of the eye becomes cloudy or opaque [6].

It's essential to note that not all individuals with brachyolmia-amelogenesis imperfecta syndrome will exhibit all of these symptoms. The severity and presentation of the condition can vary significantly from person to person.

References: [4] by E Flex · 2021 · Cited by 3 — This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and ... [6] by A Bloch-Zupan · 2023 · Cited by 21 — The most common symptoms include short stature, skeletal dysplasia, dental anomalies, and corneal clouding (Peracha et al., 2018; Akyol et al., 2019; Sawamoto ... [8] by H Nawaz · 2024 · Cited by 1 — Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly ... [9] Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with ... [10] Amelogenesis imperfecta is a rare genetic disorder affecting the enamel of teeth, leading to small, discolored, pitted, and prone to wear teeth. It can affect ...

Additional Symptoms

  • Corneal clouding
  • Skeletal dysplasia (platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga)
  • Dental anomalies (hypoplastic amelogenesis imperfecta: small, discolored, pitted teeth)
  • short stature

Diagnostic Tests

Brachyolmia-amelogenesis imperfecta syndrome can be diagnosed through a combination of clinical and radiological findings, as well as molecular genetic testing.

Clinical Diagnosis

The diagnosis of brachyolmia is primarily based on clinical and radiological findings. A healthcare professional will typically examine the individual for signs of the condition, such as short stature, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short limbs [1]. These physical characteristics can help confirm a diagnosis of brachyolmia.

Molecular Genetic Testing

In addition to clinical examination, molecular genetic testing can be used to confirm the diagnosis of brachyolmia-amelogenesis imperfecta syndrome. This type of testing involves analyzing the individual's DNA for mutations in the LTBP3 gene [2]. The test can also identify deletions or duplications in the gene that may contribute to the condition.

Genetic Testing Options

Several genetic testing options are available for diagnosing brachyolmia-amelogenesis imperfecta syndrome. These include:

  • Clinical Molecular Genetics tests, which analyze the individual's DNA for mutations in the LTBP3 gene [3].
  • Deletion/duplication analysis, Next-Generation (NGS)/Massively Parallel Sequencing (MPS) tests, which can identify deletions or duplications in the LTBP3 gene [4].
  • Clinical Genetic Tests offered by PreventionGenetics, part of Exact Sciences, which test for conditions including brachyolmia-amelogenesis imperfecta syndrome and involve analyzing genes such as LTBP3 [5].

Other Diagnostic Criteria

In some cases, serum Bone Alkaline Phosphatase and Growth Hormone Levels may be used as diagnostic criteria for children with amelogenesis imperfecta [6]. However, these tests are not specific to brachyolmia-amelogenesis imperfecta syndrome and should be used in conjunction with other diagnostic methods.

References:

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

Additional Diagnostic Tests

  • Scoliosis
  • Short limbs
  • Clinical Molecular Genetics tests
  • LTBP3 gene mutations
  • Deletions or duplications in the LTBP3 gene
  • Broad ilia
  • Elongated femoral necks with coxa valga
  • Massively Parallel Sequencing (MPS) tests
  • PreventionGenetics Clinical Genetic Tests

Treatment

Current Status of Drug Treatment for Brachyolmia-Amelogenesis Imperfecta Syndrome

Unfortunately, there is no specific drug treatment available for brachyolmia-amelogenesis imperfecta syndrome. According to the information provided in search results [4], "No specific treatment is currently available for this disease."

However, it's essential to note that the prognosis for patients with brachyolmia is generally good [3][6]. The focus of treatment is often on managing symptoms and preventing complications.

Orphanet: A Resource for Rare Diseases

Orphanet, an online database of rare diseases and orphan drugs, provides information on brachyolmia-amelogenesis imperfecta syndrome. While it does not offer specific drug treatments, it aggregates data from various sources, including research studies and clinical trials [10].

Treatment Planning in Amelogenesis Imperfecta

In the context of amelogenesis imperfecta (AI), a related condition to brachyolmia-amelogenesis imperfecta syndrome, treatment planning involves a comprehensive diagnosis and

Differential Diagnosis

Brachyolmia-amelogenesis imperfecta syndrome, also known as DASS (Dental Abnormalities and Short Stature), is a rare genetic disorder that affects the development of teeth and bones. The differential diagnosis for this condition involves ruling out other similar disorders that can cause skeletal dysplasia and dental abnormalities.

Similar Conditions:

  • Mild Spondyloepiphyseal Dysplasia: This condition is characterized by mild skeletal dysplasia, including platyspondyly (flattened vertebrae), short trunk, scoliosis, broad ilia, and elongated femoral necks with coxa valga. [3][7]
  • Brachyolmia: This disorder is also associated with skeletal dysplasia, including platyspondyly, short trunk, scoliosis, broad ilia, and elongated femoral necks with coxa valga. [4][7]
  • Dental Abnormalities and Short Stature (DASS): This condition is characterized by significant short stature, brachyolmia, hypoplastic amelogenesis imperfecta, and other dental anomalies. [10]

Key Diagnostic Features:

  • Skeletal Dysplasia: Brachyolmia-amelogenesis imperfecta syndrome is characterized by skeletal dysplasia, including platyspondyly, short trunk, scoliosis, broad ilia, and elongated femoral necks with coxa valga. [3][4]
  • Dental Abnormalities: This condition is also associated with dental abnormalities, including hypoplastic amelogenesis imperfecta and other dental anomalies. [10]

Diagnostic Flow Chart:

To diagnose brachyolmia-amelogenesis imperfecta syndrome, a diagnostic flow chart can be used to rule out other similar conditions. The differential diagnosis includes:

  1. Mild spondyloepiphyseal dysplasia
  2. Brachyolmia
  3. Dental abnormalities and short stature (DASS)

A thorough clinical evaluation, including radiographic imaging and genetic testing, is necessary to confirm the diagnosis of brachyolmia-amelogenesis imperfecta syndrome.

References:

[1] E Flex. Amelogenesis Imperfecta. 2021. [3] The differential diagnosis includes other genetic skeletal dysplasia syndromes, particularly mild spondyloepiphyseal dysplasia, including mild type 2. [4] by E Flex · 2021 · Cited by 3 — This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and ... [5] by H Nawaz · 2024 · Cited by 1 — The patients showed DASS (dental abnormalities including amelogenesis imperfecta, tooth agenesis, and short stature) phenotypes. [6] Clinical phenotype of brachyolmia with amelogenesis imperfecta (AI) and identified disease-causing variants reported in literature. Noor et al.,. (2009). [7] This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and ... [8] Sep 12, 2021 — The diagnosis of brachyolmia is achieved by ... Clinical phenotype of brachyolmia with amelogenesis imperfecta (AI) and identified disease-causing ... [9] by H Nawaz · 2024 · Cited by 1 — DASS (Dental Abnormalities and Short Stature), caused by alterations in the LTBP3 gene, was previously considered as a subtype of brachyolmia. [10] Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with ...

Additional Differential Diagnoses

  • Mild Spondyloepiphyseal Dysplasia
  • Dental Abnormalities and Short Stature (DASS)
  • brachyolmia

Additional Information

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