geleophysic dysplasia

Geleophysic dysplasia is an inherited condition that affects multiple parts of the body, including the bones, joints, heart, and skin.

Characteristics:

• Short stature with very short hands and feet [3][5]
• Abnormalities involving the bones, joints, heart, and skin [4][10]
• Heart problems, particularly abnormalities of the cardiac valves [10]
• Thickened skin [2][12]

Geleophysic dysplasia is a progressive condition that resembles a lysosomal storage disorder. It is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal.

Clinical Findings:

• The characteristic clinical findings are likely to be present in the first year of life [12][13]
• Major findings are likely to be present in the first year of life [13]

Geleophysic dysplasia is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary or occur randomly when cells are dividing.

References: [1] Not available [2] 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. Intellect is normal. [3] Description. 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. ... Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. [4] geleophysic dysplasia. The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment. [5] Geleophysic dysplasia-1 (MIM # 231050) is an autosomal recessive disease that principally affects the bones, joints, heart, and skin. It is characterized by severe short stature, short hands and feet, joint limitations, and skin thickening (Le Goff et al., 2011). LEMD3 Mutation Disease [6] Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, ... [7] Feb 21, 2024 — “Children with geleophysic dysplasia may experience heart problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood between the heart chambers. [8] Not available [9] Not available [10] Description. 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. ... Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. [11] Geleophysic dysplasia is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight ... [12] Clinical characteristics: 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. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. [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. Intellect is normal. Major findings are likely to be present in the first year of life. [14] 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. Intellect is normal.

Geleophysic dysplasia is characterized by a range of signs and symptoms that affect multiple parts of the body.

Physical Characteristics

• Short stature [3][4]
• Prominent abnormalities in hands and feet [2][5]
• Characteristic facial appearance, often described as "happy" or round and full [4][6]
• Small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum [4]
• High-pitched voice [4]

Musculoskeletal System

• Short hands and feet [5][8]
• Joint limitations and contractures [6][13]
• Osteopenia (reduced bone density) [9]
• Coxa valga (abnormal curvature of the femur) [9]
• Shortened long tubular bones, short metacarpals with rounded proximal ends, and wrist contractures [9]

Cardiovascular System

• Progressive cardiac valvular disease [11][13]

Skin

• Thickened skin [6][11]

It's worth noting that the symptoms of geleophysic dysplasia may start to appear at a young age, often in the first year of life [11]. However, the exact timing and progression of symptoms can vary from person to person.

References:

[2] - Short stature, prominent abnormalities in hands and feet, and characteristic facial appearance are key features of geleophysic dysplasia. [3] - Geleophysic dysplasia is characterized by short stature. [4] - The facial signs include a small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. [5] - Prominent abnormalities in hands and feet are a hallmark of geleophysic dysplasia. [6] - Geleophysic dysplasia is characterized by short stature, short hands and feet, joint limitations, and skin thickening. [8] - Geleophysic dysplasia-1 (GPHYSD1) is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, ... [9] - The skeletal system shows osteopenia, coxa valga, shortened long tubular bones, short hands, wrist contractures, short metacarpals with rounded proximal ends, ... [11] - Geleophysic dysplasia is a progressive condition resembling a lysosomal storage disorder, characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. [13] - Clinical characteristics: 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, also known as Shulman syndrome, is a rare genetic disorder that affects multiple systems in the body. Diagnostic tests for this condition are crucial to establish an accurate diagnosis.

Clinical Diagnosis The clinical diagnosis of geleophysic dysplasia can be established through characteristic clinical and radiographic findings [1]. A thorough physical examination, including a general physical examination, is recommended to identify ancillary signs that can support the diagnosis [6].

Radiological Manifestations Radiological manifestations are essential in diagnosing geleophysic dysplasia. These include:

• Delayed bone age
• Cone-shaped epiphyses
• Shortened long tubular bones
• Ovoid vertebral bodies

These radiologic features are commonly observed in individuals with geleophysic dysplasia [8].

Genetic Analysis Genetic analysis is recommended for individuals with a personal and/or family history of this disorder to ensure an accurate molecular diagnosis [4]. This test can provide valuable information about the genetic mutations responsible for the condition.

Other Diagnostic Tests While not specifically mentioned in the search results, other diagnostic tests such as echocardiography may be used to assess cardiac function and identify any abnormalities related to geleophysic dysplasia, such as thickened cardiac valves [5].

In summary, the diagnostic tests for geleophysic dysplasia include:

• Clinical diagnosis through characteristic clinical and radiographic findings
• Radiological manifestations (delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies)
• Genetic analysis to provide a molecular diagnosis

References: [1] Sep 22, 2009 — The clinical diagnosis of geleophysic dysplasia can be established in a proband with characteristic clinical and radiographic findings; the ... [4] Dec 1, 2009 — Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ... [5] Dec 1, 2009 — In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. [6] As in other genetic syndromes, ancillary signs can be helpful in securing the diagnosis; thus, a general physical examination is also recommended. These ... [8] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have ...

Geleophysic dysplasia (GPHYSD) is a rare genetic disorder that affects the bones, joints, heart, and skin. While there is no cure for GPHYSD, research has identified potential treatment options to manage its symptoms.

Losartan: A Promising Candidate Drug Losartan, an angiotensin II receptor antagonist, has been investigated as a potential treatment for GPHYSD due to FBN1 defects [3][8]. Studies suggest that losartan may help stabilize or improve lesions in some patients with GPHYSD [6].

Supportive and Rehabilitative Care Treatment for GPHYSD is generally limited to supportive and rehabilitative care, as the disorder is usually slowly progressive [6]. This may include physical therapy, occupational therapy, and other interventions to manage symptoms and improve quality of life.

Other Potential Therapies While there are no specific FDA-approved treatments for GPHYSD, researchers have explored other potential therapies, including:

• TGF-β signaling pathway inhibitors: These may help mitigate the effects of TGF-β signaling defects associated with GPHYSD [3].
• Angiotensin-converting enzyme (ACE) inhibitors: These may also be beneficial in managing symptoms related to FBN1 defects [8].

Future Research Directions Further research is needed to fully understand the potential benefits and risks of these treatment options. Ongoing studies will help determine the most effective approaches for managing GPHYSD.

References:

[3] Piccolo, P. (2019). Losartan as a candidate drug for treatment of geleophysic dysplasia due to FBN1 defects. [Cited by 10]

[6] Geleophysic Dysplasia-1 (MIM #231050) is an autosomal recessive disease that principally affects the bones, joints, heart, and skin.

[8] A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance.

Geleophysic dysplasia, a rare genetic disorder, can be challenging to diagnose due to its overlapping clinical features with other conditions. The differential diagnosis for geleophysic dysplasia includes:

• Acromicric dysplasia: This condition is characterized by short stature, short extremities, and progressive joint limitation, similar to geleophysic dysplasia [4][5].
• Weill-Marchesani syndrome: A genetic disorder that affects the connective tissue, causing features such as short stature, brachydactyly (short fingers), and joint contractures, which can be similar to geleophysic dysplasia [3].
• Myhre syndrome: A rare genetic disorder characterized by short stature, facial abnormalities, and progressive joint limitation, which can be confused with geleophysic dysplasia [12].
• Moore-Federman syndrome: This condition is likely the same as acromicric dysplasia, and its differential diagnosis with geleophysic dysplasia involves considering the facial appearance, proximal femora aspect, and presence or absence of storage phenomena [8].

It's essential to note that a comprehensive diagnostic evaluation, including clinical examination, radiographic features, and genetic testing, is necessary to accurately diagnose geleophysic dysplasia and differentiate it from these conditions.

References:

[3] Context 3 [4] Context 4 [5] Context 5 [8] Context 8 [12] Context 12