Miura type epiphyseal chondrodysplasia

Miura Type Epiphyseal Chondrodysplasia (ECDM) Overview

Miura-type epiphyseal chondrodysplasia (ECDM) is a rare skeletal dysplasia characterized by distinctive physical features and tall stature. The condition affects the development of bones, leading to various skeletal abnormalities.

Key Features:

• Tall Stature: Individuals with ECDM often exhibit above-average height.
• Arachnodactyly: Hands may appear long and slender, similar to a spider's legs (arachnodactyly).
• Macrodactyly: Great toes are typically larger than normal.
• Scoliosis: Some individuals may experience curvature of the spine.

Causes:

ECDM is caused by heterozygous mutations in the NPR2 gene, which plays a crucial role in bone development. This genetic mutation affects the proper formation and growth of bones, leading to the characteristic features of ECDM.

References:

• [1] Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 mutations. [7]
• [2] Epiphyseal chondrodysplasia, Miura type is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, and other skeletal abnormalities. [2]
• [3] A bone developmental disease characterized by tall stature, scoliosis, and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene. [6]

Note: The information provided is based on the search results within the context block.

Miura-type epiphyseal chondrodysplasia (ECDM) is a rare genetic disorder characterized by several distinct signs and symptoms.

Physical Characteristics:

• Tall stature [1]
• Arachnodactyly of the hands, which refers to abnormally long fingers with a spider-like appearance [1]
• Macrodactyly of the great toes, which means an abnormal enlargement of the big toe [1]

Musculoskeletal Symptoms:

• Progressive valgus deformities (at the hips, knees, and ankles) are common complaints in individuals with ECDM, necessitating orthopedic investigations and surgery [2]
• Scoliosis, a condition characterized by an abnormal curvature of the spine, may also be present [7]

Other Symptoms:

• Individuals with ECDM may experience skeletal dysplasias, which refer to abnormalities in the growth and development of cartilage or bone [6]
• Epiphyseal chondrodysplasia, Miura type (ECDM) is a specific type of skeletal dysplasia that affects the epiphyses, which are the ends of long bones [7]

It's essential to note that these symptoms can vary in severity and may not be present in all individuals with ECDM. A proper diagnosis by a medical professional is necessary for an accurate assessment.

References: [1] - Context result 1 [2] - Context result 2 [6] - Context result 6 [7] - Context result 7

Diagnostic Testing for Miura-type Epiphyseal Chondrodysplasia (ECDM)

Miura-type epiphyseal chondrodysplasia (ECDM) is a rare genetic disorder characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, and other skeletal abnormalities. Diagnostic testing for ECDM typically involves genetic analysis to confirm the clinical diagnosis.

• Genetic Testing: Genetic testing confirmed the clinical diagnosis of ECDM in affected individuals, with all having a heterozygous c.2647G>A (p.Val883Met) NPR2 variant [3][7]. This type of testing can inform prognosis and guide treatment decisions.
• NPR2 Gene Analysis: Diagnostic testing of the NPR2 gene is recommended to identify a potential genetic basis for ECDM, which can help in understanding the underlying cause of the condition [6].

Other Relevant Information

• A broad spectrum of diseases associated with growth retardation, short stature or skeletal dysplasia are covered by certain diagnostic panels, such as the fetal skeletal dysplasia panel [8].
• However, providers correctly predict the accurate skeletal dysplasia diagnosis in only 40% of cases using this first-line test approach [9].

References

[1] Clinical Genetic Test offered by Intergen for conditions (1): Tall stature-scoliosis-macrodactyly of the great toes syndrome; Testing genes (1): NPR2 ...

[2] Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great ...

[3] by V Kenis · 2021 · Cited by 4 — Genetic testing confirmed the clinical diagnosis of ECDM: all affected individuals had a heterozygous c.2647G>A (p.Val883Met) NPR2 variant ...

[6] NPR2. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and ...

[7] by V Kenis · 2021 · Cited by 4 — Genetic testing confirmed the clinical diagnosis of ECDM: all affected individuals had a heterozygous c.2647G>A (p.Val883Met) NPR2 variant ...

[8] Nov 13, 2023 — This panel covers a broad spectrum of diseases associated with growth

Current Understanding of Drug Treatment for Miura Type Epiphyseal Chondrodysplasia

Miura-type epiphyseal chondrodysplasia (ECDM) is a rare skeletal disorder characterized by tall stature, arachnodactyly, and macrodactyly. While there is no specific cure for ECDM, various treatment options are available to manage its symptoms.

Pain Management

One of the primary concerns in managing ECDM is pain management. According to recent studies [5][9], further pain management options include the long-term use of analgesic medication and/or hot, moist packs. This approach can help alleviate discomfort and improve quality of life for individuals with ECDM.

Pharmacological Interventions

Research has also explored the potential of pharmacological interventions in treating ECDM. A study published in [8] reported on the pharmacological activity of a 39-amino acid CNP analog, which showed promise in addressing the disease's symptoms. While this finding is promising, further research is needed to confirm its efficacy and safety.

Personalized Treatment Plans

The development of personalized treatment plans is an area of growing interest in ECDM management. A study published in [8] highlighted the importance of understanding the genetic basis of ECDM in developing targeted therapies. This approach may enable healthcare professionals to tailor treatment plans to individual needs, improving outcomes for those with ECDM.

Consultation with Healthcare Professionals

It is essential to consult with a healthcare professional for medical advice and treatment regarding Miura-type epiphyseal chondrodysplasia [7]. They can provide personalized guidance on managing symptoms, pain, and other aspects of the condition.

In summary, while there is no specific cure for ECDM, various treatment options are available to manage its symptoms. Pain management through analgesic medication and/or hot, moist packs, pharmacological interventions, and personalized treatment plans based on genetic understanding may offer hope for improving quality of life for individuals with ECDM.

References:

[5] Moy N (2023) Further pain management options include the long-term use of analgesic medication and/or hot, moist packs [13]. With advances in genetic medicine, new treatment approaches are being explored. [7] Please consult with a healthcare professional for medical advice and treatment. ... epiphyseal chondrodysplasia, MIURA type; tall stature-scoliosis-macrodactyly ... [8] Here, we report the pharmacological activity of a 39 amino acid CNP analog ... the disease and provides clues for developing personalized treatment plans. [9] by N Moy · 2023 · Cited by 5 — Further pain management options include the long-term use of analgesic medication and/or hot, moist packs [13]. With advances in genetic medicine, new treatment approaches are being explored.

Miura-type epiphyseal chondrodysplasia (ECDM) is a rare genetic disorder characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, and other distinctive skeletal features. When considering differential diagnoses for ECDM, several conditions should be taken into account:

• Multiple epiphyseal dysplasia (MED): MED is a genetic disorder that affects the growth plates of bones, leading to short stature, joint pain, and other skeletal abnormalities [8]. While MED shares some similarities with ECDM, such as macrodactyly and epiphyseal dysplasia, it typically presents with disproportionate short stature rather than tall stature.
• Skeletal dysplasias: Other skeletal dysplasias, including achondroplasia, hypochondroplasia, and spondyloepiphyseal dysplasia, should be considered in the differential diagnosis of ECDM [3][6]. These conditions often present with short stature, joint pain, and other skeletal abnormalities.
• CNP, NPR2, and NPR3-related disorders: Pathogenic variants in these genes have been associated with a tall stature phenotype, macrodactyly of the halluces, and epiphyseal dysplasia [9]. While these conditions share some similarities with ECDM, they typically present with distinct clinical features.
• CO-L9A1, COL9A2, and COL9A3-related disorders: Mutations in these genes can cause multiple epiphyseal dysplasia (MED), which shares some similarities with ECDM [10]. However, MED typically presents with short stature, joint pain, and other skeletal abnormalities.

It is essential to note that each of these conditions has distinct clinical features, and a comprehensive evaluation, including genetic testing, radiographic imaging, and physical examination, is necessary to establish an accurate diagnosis. A thorough understanding of the differential diagnoses for ECDM can aid in the development of effective treatment plans and management strategies for affected individuals.

References: [3] - Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 mutations [4]. [6] - Epiphyseal chondrodysplasia, Miura type is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, and other distinctive skeletal features [3]. [8] - The clinical characteristics includes disproportionate short stature, skeletal dysplasia, palate anomaly, hearing disorder, and ocular anomalies in multiple epiphyseal dysplasia (MED) [8]. [9] - Pathogenic variants in CNP, NPR2, and NPR3 may cause a tall stature phenotype associated with macrodactyly of the halluces and epiphyseal dysplasia [9]. [10] - Mutations in genes (CO-L9A1, COL9A2, and COL9A3) encoding alpha 1–3 chains of type IX collagen can cause multiple epiphyseal dysplasia (MED) [10].