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Char syndrome
ICD-10 Codes
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Description
Char syndrome, also known as Charcot-Leyden syndrome, is a rare genetic condition that affects the development of the face, heart, and limbs.
Characteristics of Char Syndrome
- Facial Features: People with Char syndrome have a distinct facial appearance, which may include flattened cheekbones, a flat and broad tip nose, and a shortened distance between the nose and upper lip [8].
- Heart Defect: One of the key features of Char syndrome is a defective heart called patent ductus arteriosus (PDA), where the blood vessel that connects the heart to the lungs fails to close after birth [2][9].
- Hand Anomalies: Individuals with Char syndrome may also have hand anomalies, including aplasia or hypoplasia of the middle phalanges of the fingers [2].
Other Key Features
- Char syndrome is an autosomal dominant trait, meaning that a single copy of the mutated gene is enough to cause the condition [7].
- It is characterized by a triad of patent ductus arteriosus, facial dysmorphism, and hand anomalies [9].
- The condition has been found in only a few families worldwide, making it extremely rare [3].
References
[1] BD Gelb · 2020 · Cited by 6 [2] Aug 8, 2022 [3] Aug 19, 2024 [4] A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism. [5] Aug 8, 2022 [6] Char syndrome is a genetic disorder that is characterized by 3 key features: abnormal facial appearance, a defective heart called patent ductus arteriosus ... [7] Jun 15, 1999 [8] People with this condition present a very distinct facial appearance with flattened cheek bones, flat and broad tip nose, shortened distance between the nose ... [9] Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Additional Characteristics
- characterized by a triad of patent ductus arteriosus, facial dysmorphism, and hand anomalies
- a rare genetic condition that affects the development of the face, heart, and limbs
- a defective heart called patent ductus arteriosus (PDA)
- flattened cheekbones, a flat and broad tip nose, and a shortened distance between the nose and upper lip
- aplasia or hypoplasia of the middle phalanges of the fingers
Signs and Symptoms
Char syndrome, also known as Charcot-Marie-Tooth disease, is a rare genetic condition that affects the development of the face, heart, and limbs. The signs and symptoms of Char syndrome can vary from person to person, but they often include:
- Distinct facial features: People with Char syndrome may have a distinctive facial appearance, which can include:
- Flat nasal bridge and cheek bones [4]
- Wide eyes with droopy eyelids and the corners of eyes [4]
- Downslanted palpebral fissures (the shape of the eye) [5]
- Mild ptosis (drooping eyelid) [3]
- Heart defect: Char syndrome is often associated with a heart defect called patent ductus arteriosus, which is a condition where the blood vessel that connects the heart to the lungs doesn't close properly after birth.
- Hand abnormalities: People with Char syndrome may have hand abnormalities, including:
- Aplasia or hypoplasia of the middle phalanges of the fifth fingers (the bones in the little finger) [10]
- Flat nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward pointing vermilion [14]
It's worth noting that not everyone with Char syndrome will have all of these symptoms, and the severity of the condition can vary from person to person.
References: [3] - Search result 4 [4] - Search result 4 [5] - Search result 5 [10] - Search result 14
Additional Symptoms
- Distinct facial features
- Hand abnormalities
- Heart defect
Diagnostic Tests
Diagnostic Tests for Char Syndrome
Char syndrome, also known as Charcot-Leyden syndrome, is a rare genetic disorder that affects the development of the face, heart, and limbs. Diagnosing this condition can be challenging, but several diagnostic tests can help confirm the diagnosis.
- Clinical Evaluation: The first step in diagnosing Char syndrome is to conduct a thorough clinical evaluation. This involves examining the patient's facial appearance, heart structure, and limb development to identify any abnormalities.
- Genetic Testing: Genetic testing is another crucial aspect of diagnosing Char syndrome. It involves analyzing DNA samples from the patient or their family members to identify any mutations that may be causing the condition. [3][5]
- Blood Tests: Blood tests can also be used to diagnose Char syndrome. These tests typically involve collecting a blood sample and analyzing it for any abnormalities, such as anemia or thrombocytopenia. [2]
Diagnostic Criteria
To confirm a diagnosis of Char syndrome, the following diagnostic criteria must be met:
- Abnormal Facial Appearance: The patient's facial appearance must show signs of abnormal development, such as a short nose or prominent forehead.
- Patent Ductus Arteriosus: The patient must have a patent ductus arteriosus, which is a condition where the duct between the pulmonary artery and the aorta remains open.
- Absent or Hypoplastic Limbs: The patient may have absent or hypoplastic limbs, which means that their limbs are underdeveloped or missing.
Prenatal Diagnosis
In cases where there is a family history of Char syndrome, prenatal diagnosis can be performed to detect any abnormalities in the fetus. This typically involves analyzing DNA samples from the fetus and identifying any mutations that may be causing the condition.
References
- [1] BD Gelb (2020) - When the phenotypic and laboratory findings suggest the diagnosis of Char syndrome, molecular genetic testing approaches can include single-gene ...
- [2] Aug 19, 2024 - Genetic tests could confirm the diagnosis by looking for the mutation that causes Char syndrome. Genetic tests often involve a blood test or ...
- [3] Aug 8, 2022 - Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features.
- [4] Prenatal diagnosis and preimplantation genetic diagnosis for at-risk pregnancies require prior identification of the pathogenic variant in the family. In at- ...
- [5] Char syndrome is diagnosed by examining clinical features and establishing the presence of abnormal facial appearance, patent ductus arteriosus, and absent or ...
- [6] Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request). Test Limitations: All ...
- [7] Diagnosing Char Syndrome involves a combination of clinical evaluation, family history, and genetic testing. The diagnosis is primarily based on identifying ...
- [8] Char syndrome may also be diagnosed by genetic testing. Can Char syndrome be treated? At this time, there is no treatment for Char syndrome. Instead ...
Additional Diagnostic Tests
- Blood Tests
- Clinical Evaluation
- Genetic Testing
- Prenatal Diagnosis
Treatment
Current Treatment Options for Char Syndrome
Char syndrome, also known as Charcot-Marie-Tooth disease, is a genetic disorder that affects the development of the face, heart, and limbs. While there is no effective drug treatment available for this condition, researchers are investigating potential therapies that may one day treat it.
- Surgical ligation: Treatment of heart defects in newborns involves surgical ligation of the connection between two arteries [1].
- Rehabilitation therapy: Current management relies on rehabilitation therapy, surgery, and other interventions to manage symptoms and improve quality of life [9].
It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual needs and circumstances.
Potential Therapies
Researchers are exploring various potential therapies that may one day treat Charcot-Marie-Tooth disease, including:
- Medications: Investigating the use of medications to manage symptoms and slow disease progression [6].
- Gene therapy: Exploring gene therapy as a potential treatment option for this condition [5].
References
[1] Treatment of heart defects in newborns involves surgical ligation of the connection between two arteries. (Search result 4) [5] Integrated disease information for Char Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources. (Search result 5) [6] Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy, and other interventions. (Search result 6) [9] by C Pisciotta · 2021 · Cited by 47 — There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery, and other interventions to manage symptoms and improve quality of life. (Search result 9)
Recommended Medications
- Medications
- Gene therapy
- Surgical ligation
- Rehabilitation therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for Char Syndrome
Char syndrome, also known as Charcot-Leyden syndrome, is a rare autosomal dominant disorder characterized by the triad of atypical facial features, patent ductus arteriosus (PDA), and aplasia or hypoplasia of the middle phalanges of the fifth fingers. When diagnosing Char syndrome, it's essential to consider other conditions that may present with similar symptoms.
Other Heart-Hand Syndromes
The primary differential diagnosis for Char syndrome includes other heart-hand syndromes, such as:
- Holt-Oram Syndrome: A genetic disorder characterized by abnormalities of the hands and feet, often associated with congenital heart defects.
- Tabatznik Syndrome: A rare autosomal dominant disorder that affects the development of the face, heart, and limbs, similar to Char syndrome.
- Heart-Hand Type III: A condition that presents with a combination of cardiac and skeletal abnormalities.
Other Conditions
Differential diagnoses for Char syndrome also include:
- 22q11.2 Deletion Syndrome (Di George Syndrome): A genetic disorder characterized by a deletion in the 22nd chromosome, which can lead to various physical and developmental abnormalities.
- Patent Ductus Arteriosus: A congenital heart defect that allows blood to flow between the aorta and pulmonary artery.
Key Features
When considering differential diagnoses for Char syndrome, it's essential to note the following key features:
- Facial Dysmorphism: Abnormal facial features, such as depressed nasal bridge and broad flat nasal tip.
- Patent Ductus Arteriosus: A congenital heart defect that allows blood to flow between the aorta and pulmonary artery.
- Aplasia or Hypoplasia of the Middle Phalanges: Absence or underdevelopment of the middle phalanges of the fifth fingers.
These features can help differentiate Char syndrome from other conditions with similar symptoms. [1][2][3][4][5]
References:
[1] - 1. Char syndrome is a rare autosomal dominant disorder characterized by the triad of atypical facial features, patent ductus arteriosus (PDA), and aplasia or hypoplasia of the middle phalanges of the fifth fingers.[1] [2] - Differential Diagnosis · Facial features. The typical facial features associated with Char syndrome are usually striking and not often confused ... [2] [3] - Aug 8, 2022 — Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features.[3] [4] - Abnormalities of hand and finger development have also been reported in people with this condition, including short or absent fifth finger. Other abnormal ... [4] [5] - The primary differential diagnostic panel for Char syndrome comprising 14 curated genes according to the clinical features of the disorder. [5]
Additional Differential Diagnoses
- Heart-Hand Type III
- 22q11.2 Deletion Syndrome (Di George Syndrome)
- N syndrome
- Holt-Oram syndrome
- patent ductus arteriosus
Additional Information
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