geleophysic dysplasia 3

Geleophysic dysplasia 3 (GPHYSD3) is a rare skeletal disease characterized by severe short stature, short hands and feet, joint limitations, delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies [6]. Affected individuals also have characteristic facial features, including a 'happy' face with full cheeks, shortened nose, hypertelorism, long flat philtrum, and a thin upper lip [4].

The clinical characteristics of geleophysic dysplasia 3 include:

• Severe short stature
• Short hands and feet
• Joint limitations
• Delayed bone age
• Cone-shaped epiphyses
• Shortened long tubular bones
• Ovoid vertebral bodies

These physical features are often present at birth or in the first year of life [10]. Geleophysic dysplasia 3 is a progressive condition, meaning that it can worsen over time. However, intellect is normal, and affected individuals have a normal range of cognitive abilities [10].

It's worth noting that geleophysic dysplasia 3 is a rare condition, and more research is needed to fully understand its causes and effects on the body.

Geleophysic dysplasia 3, also known as GPHYSD3, is a rare genetic disorder that affects multiple parts of the body. The signs and symptoms of this condition can vary from person to person, but some common characteristics include:

• Short stature: People with geleophysic dysplasia 3 typically have short stature, which can range from mild to severe.
• Abnormalities in hands and feet: Short hands and feet are a characteristic feature of this condition. The hands may be small and narrow, while the feet may be short and stubby.
• Joint limitations and contractures: As the condition progresses, people with geleophysic dysplasia 3 may experience joint stiffness and limited mobility, leading to contractures in the joints.
• Skin thickening: Thickened skin is another common symptom of this condition, which can lead to a range of complications, including skin folds and ulcers.
• Facial features: The facial features of people with geleophysic dysplasia 3 are often described as "happy-looking" or "pleasant." They may have a round face, full cheeks, and a small nose with anteverted nostrils.
• Cardiac valvular disease: Some individuals with geleophysic dysplasia 3 may experience progressive cardiac valvular disease, which can lead to heart problems.

It's essential to note that the severity and progression of these symptoms can vary significantly from person to person. If you or someone you know has been diagnosed with geleophysic dysplasia 3, it's crucial to work closely with a healthcare professional to manage the condition and prevent complications.

References:

• [10] Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.
• [6] It is characterized by severe short stature, short hands and feet, joint limitations, and skin thickening (Le Goff et al., 2011).
• [13] Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin.

Geleophysic dysplasia 3, also known as Geleophysic dwarfism, can be diagnosed through a combination of clinical evaluation and diagnostic tests.

Clinical Evaluation: The diagnosis of geleophysic dysplasia 3 is primarily based on the characteristic clinical features, such as short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance. A thorough physical examination by a qualified healthcare provider, often including a pediatrician or a geneticist, can help identify these features.

Diagnostic Tests: While there are no specific diagnostic tests for geleophysic dysplasia 3, various laboratory tests and imaging studies may be performed to confirm the diagnosis and rule out other conditions. These may include:

• Genetic testing: Molecular genetic testing of the LTBP3 gene can help identify pathogenic variants associated with geleophysic dysplasia 3.
• Imaging studies: Radiologic features, such as delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies, may be observed on X-rays or other imaging modalities.

Diagnostic Testing Recommendations: Diagnostic testing of the LTBP3 gene is recommended to identify a potential genetic basis for geleophysic dysplasia 3. This type of testing can inform prognosis and clinical management (8).

It's essential to note that a diagnosis of geleophysic dysplasia 3 should be made by a qualified healthcare provider, such as a pediatrician or a geneticist, in consultation with other specialists as needed.

References:

• [1] Clinical features of geleophysic dysplasia 3.
• [8] Diagnostic testing recommendations for geleophysic dysplasia 3.
• [7] Radiologic features of geleophysic dysplasia 3.

Geleophysic dysplasia 3 (GPHYSD3) is a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. While there are no specific treatments mentioned in the search results for GPHYSD3, research suggests that losartan may be a promising candidate drug for treatment of geleophysic dysplasia due to FBN1 defects.

Potential Treatment Options:

• Losartan: A study published in 2019 suggested that losartan may be effective in treating geleophysic dysplasia due to FBN1 defects. However, more research is needed to confirm its efficacy and safety for GPHYSD3 specifically.
• Anti-inflammatory drugs: In one case report, treatment with anti-inflammatory drugs (azithromycin and inhaled or) was started for airway issues associated with geleophysic dysplasia.

Important Considerations:

• These potential treatments are based on limited research and may not be directly applicable to GPHYSD3.
• Geleophysic dysplasia is a complex condition that requires comprehensive medical care. Any treatment decisions should be made in consultation with a qualified healthcare professional.

References:

[10] - An important gene associated with Geleophysic Dysplasia 3 is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. [12] - Losartan is a promising candidate drug for treatment of GPHYSD due to FBN1 defects. Keywords: extracellular matrix, geleophysic dysplasia, intracytoplasmic inclusions, losartan. [11] - Geleophysic dysplasia is a rare multisystem disorder that principally affects the bones, joints, heart, and skin.

Geleophysic dysplasia can be distinguished from other conditions through a differential diagnosis.

• Stiff skin syndrome: This condition is characterized by firm woody induration of the skin with joint contractures, but it can be distinguished from geleophysic dysplasia by its characteristic clinical and histologic features [2].
• Progeria: Progeria is a rare genetic disorder that causes premature aging in children. While both conditions share some similarities, such as short stature and joint limitations, they have distinct differences in their clinical presentation and histology [2].
• Neonatal mucolipidosis II: This is a rare lysosomal storage disorder that can present with similar symptoms to geleophysic dysplasia, including short stature and joint contractures. However, it can be distinguished by its characteristic histologic features and the presence of mucopolysaccharides in the urine [2].
• Farber's lipomatosis: This is a rare genetic disorder that causes abnormal growths of fatty tissue under the skin. While both conditions share some similarities, such as short stature and joint limitations, they have distinct differences in their clinical presentation and histology [2].

These conditions can be distinguished from geleophysic dysplasia through a combination of clinical evaluation, histologic examination, and genetic testing.

References: [1] Chapter 80 covers geleophysic dysplasia (MIM 231050), including major clinical findings, radiographic features, and differential diagnoses. [2] Disorders of the Subcutaneous Tissue. Bernard A. Cohen, in Neonatal Dermatology (Second Edition), 2008 Differential Diagnosis.