Temtamy Syndrome
Disease Details
Family Health Simplified
- Description
- Temtamy syndrome is a rare genetic disorder characterized by intellectual disability, distinct facial features, and various congenital anomalies, often affecting the skeletal and renal systems.
- Type
- Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is an autosomal recessive disorder.
- Signs And Symptoms
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Temtamy syndrome, also known as TMEM231-related Meckel-like syndrome, is a rare genetic disorder. Signs and symptoms can vary but typically include:
1. **Facial Dysmorphisms**: Distinct facial features such as a broad nasal bridge, cleft palate, or a small jaw.
2. **Neurological Issues**: These may include intellectual disability, developmental delays, or seizures.
3. **Limb Abnormalities**: Polydactyly (extra fingers or toes) or syndactyly (webbing between fingers or toes).
4. **Renal Abnormalities**: Kidney malformations or dysfunction.
5. **Other Congenital Malformations**: This could include heart defects and other organ anomalies.
"nan" does not refer to any specific signs or symptoms within this context. - Prognosis
- Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by distinctive craniofacial features, limb abnormalities, and potential intellectual disability. The prognosis varies depending on the severity of the associated symptoms and the presence of any additional congenital anomalies. While some individuals with Temtamy syndrome may lead relatively normal lives with appropriate medical care and support, others may experience more significant developmental and health challenges. Early intervention and tailored therapies can help improve the quality of life for those affected.
- Onset
- Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, typically presents at birth or in early infancy (onset: neonatal period). It is a genetic disorder characterized by congenital anomalies, particularly affecting skeletal development, including preaxial brachydactyly (shortening of the bones in the fingers and toes) and other potential malformations. There is no association with nan (no additional information noted).
- Prevalence
- The prevalence of Temtamy syndrome is not well-documented, making it difficult to provide a specific figure. This is due to its rarity and the limited number of cases reported in the medical literature.
- Epidemiology
- Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by distinct craniofacial abnormalities, limb anomalies, and intellectual disability. It is inherited in an autosomal recessive pattern. Due to its rarity, precise epidemiological data are limited, and the prevalence is not well established. Most available information comes from individual case reports or small case series.
- Intractability
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Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by developmental anomalies including limb defects and other physical abnormalities. The management of Temtamy syndrome typically involves addressing the individual symptoms and may require a multi-disciplinary approach including orthopedic interventions, physical therapy, and supportive care.
The term "intractable" usually refers to conditions that are difficult to manage or treat effectively. While there is no cure for Temtamy syndrome, the symptoms can often be managed with appropriate medical care. Therefore, while the underlying genetic cause cannot be eradicated, the condition itself is not considered intractable in terms of symptom management. However, the complexity and rarity of the syndrome can make management challenging. - Disease Severity
- The severity of Temtamy syndrome can vary considerably among individuals. It is a rare genetic disorder characterized by a range of symptoms, including developmental delays, intellectual disabilities, and distinct facial features. The severity can range from mild to severe based on the extent of developmental and physical abnormalities. Nan (or nanomelia) is sometimes used in different contexts, but in relation to Temtamy syndrome, it generally refers to underdeveloped limbs, a feature which may or may not be present in affected individuals.
- Healthcare Professionals
- Disease Ontology ID - DOID:0111621
- Pathophysiology
- The pathophysiology of Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome (TPBS), involves genetic mutations that affect skeletal development. Specifically, it is commonly associated with mutations in the CHD7 gene. This gene plays a crucial role in chromatin remodeling, which is essential for the proper regulation of gene expression during development. Mutations in CHD7 disrupt these processes, leading to the characteristic features of the syndrome, such as preaxial brachydactyly, intellectual disabilities, and distinctive facial features. The exact mechanisms by which CHD7 mutations cause these specific phenotypes are still under investigation.
- Carrier Status
- Temtamy syndrome, also known as Temtamy preaxial brachytelephalangy syndrome, is an autosomal recessive disorder. Carrier status refers to individuals who have one mutated copy of the gene associated with the syndrome but do not exhibit symptoms. These carriers can pass the gene to their offspring, who would only develop the syndrome if they inherit two mutated copies (one from each parent).
- Mechanism
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Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder primarily characterized by preaxial brachydactyly, intellectual disability, and distinct craniofacial features.
**Mechanism:**
The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disorder.
**Molecular mechanisms:**
Temtamy syndrome is caused by mutations in the CHSY1 gene, which encodes the enzyme chondroitin sulfate synthase-1. This enzyme is crucial for the biosynthesis of chondroitin sulfate, an essential component of cartilage and other connective tissues. Mutations in CHSY1 result in defective enzymatic activity, leading to abnormalities in the structure and function of cartilage and other tissues, which manifest as the clinical features of Temtamy syndrome. - Treatment
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Temtamy Syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder. There is no specific cure for the syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:
1. **Orthopedic Interventions**: Surgery may be required to correct hand and foot abnormalities.
2. **Physical Therapy**: To improve mobility and physical function.
3. **Developmental Support**: Special education services and therapies to support developmental delays.
4. **Regular Monitoring**: Ongoing medical supervision to manage associated health issues or complications.
Collaboration with a multidisciplinary team of healthcare providers ensures comprehensive care. - Compassionate Use Treatment
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Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by a number of congenital anomalies. As with many rare genetic conditions, specific treatments may not be well-established due to its rarity. However, compassionate use treatments and off-label or experimental treatments are sometimes considered in managing symptoms and improving quality of life.
1. **Compassionate Use Treatment**: This involves accessing investigational or unapproved treatments outside of clinical trials for patients with serious or life-threatening conditions who have no other treatment options. In countries like the United States, the FDA regulates compassionate use under the Expanded Access program.
2. **Off-Label Treatments**: These are treatments where approved drugs are used for unapproved indications. For instance, medications that address specific symptoms of Temtamy syndrome (e.g. pain management for musculoskeletal abnormalities, or medication for seizure control if applicable) may be used off-label based on a clinician's judgment.
3. **Experimental Treatments**: Participation in clinical trials can provide access to novel therapies that are still under investigation but show promise in managing aspects of Temtamy syndrome. It's recommended to consult with medical professionals who can guide on potential eligibility and suitability for such trials.
For all these options, it's crucial to work closely with a geneticist or a specialist knowledgeable in rare genetic disorders to tailor the best individual care plan. - Lifestyle Recommendations
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Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome, is a rare genetic disorder characterized by distinct craniofacial features, limb anomalies, and intellectual disabilities. Here are some general lifestyle recommendations for managing the condition:
1. **Regular Medical Care**: Frequent check-ups with a multidisciplinary team including pediatricians, geneticists, orthopedic specialists, and neurologists, to monitor and manage symptoms.
2. **Physical Therapy**: Engage in physical therapy to improve mobility and manage any orthopedic issues, such as limb anomalies or joint stiffness.
3. **Occupational Therapy**: Participate in occupational therapy to enhance daily living skills and improve hand function, benefiting individuals with brachydactyly or other limb irregularities.
4. **Speech Therapy**: Utilize speech and language therapy to address any speech or communication difficulties.
5. **Educational Support**: Ensure the child has access to special education services tailored to their cognitive and intellectual abilities. Individualized education plans (IEPs) can be beneficial.
6. **Healthy Diet**: Maintain a balanced diet to support overall health and assist with managing weight, which is important for individuals with limited mobility.
7. **Physical Activity**: Engage in appropriate physical activities to promote cardiovascular health, flexibility, and strength, within the limitations set by the individual's physical condition.
8. **Social Support**: Foster a supportive environment with access to family, friends, and community resources for emotional well-being.
9. **Adaptive Devices**: Utilize adaptive devices and technologies to assist with daily activities, enhancing independence and quality of life.
10. **Mental Health**: Pay attention to mental health, providing support and counseling if needed to address potential issues such as anxiety or depression.
Personalized recommendations should be developed in consultation with healthcare providers familiar with the individual's specific needs and conditions. - Medication
- Temtamy syndrome, also known as Temtamy preaxial brachydactyly syndrome (TPBS), is a rare genetic disorder. No specific medications target the syndrome itself, but treatment typically focuses on managing and alleviating the symptoms and complications associated with the condition. The management plan often includes multidisciplinary care involving geneticists, orthopedists, cardiologists, and other specialists as needed.
- Repurposable Drugs
- There is limited specific information available on repurposable drugs for Temtamy syndrome as it is a rare genetic disorder. Research typically focuses on symptomatic treatment and supportive care. For precise therapeutic strategies or advancements, consultation with a genetic specialist or a healthcare professional is advisable.
- Metabolites
- For Temtamy Syndrome, there is no specific information on associated metabolites. This rare genetic disorder, also known as Temtamy preaxial brachydactyly syndrome, mainly involves abnormalities in limb development, skull shape, and brain structure, typically tied to mutations in the CD96 gene. Information on metabolites hasn't been not specifically detailed for this condition.
- Nutraceuticals
- There is no substantial evidence or widely accepted clinical guidelines supporting the use of nutraceuticals for the treatment or management of Temtamy syndrome. This rare genetic disorder, often characterized by developmental delay, ocular abnormalities, and distinct craniofacial features, typically requires specialized medical care. Management might involve various supportive therapies such as physical, occupational, or speech therapy tailored to the individual's specific symptoms. Always consult healthcare professionals for personalized medical advice.
- Peptides
- Temtamy Syndrome, also known as TMEM231-related Joubert syndrome, is primarily a genetic disorder affecting brain development, often leading to motor and cognitive impairments, as well as distinctive facial features. There is currently no known association between specific peptides and Temtamy Syndrome. Research on Temtamy Syndrome and peptide-based therapies or biomarkers is limited.