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Ritscher-Schinzel syndrome 2
ICD-10 Codes
Related ICD-10:
Description
Ritscher-Schinzel syndrome-2 (RTSC2) is a rare genetic disorder that affects males, characterized by intellectual disability, posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities.
Key Features:
- Intellectual disability
- Posterior fossa defects, such as Dandy-Walker malformation and cerebellar vermis hypoplasia
- Cardiac malformations, including tetralogy of Fallot and atrial septal defects
- Minor abnormalities of the face and distal extremities, such as low-set ears, hypertelorism, and down-slanting palpebral fissures
Inheritance Pattern: RTSC2 is inherited in an X-linked recessive manner, meaning that it primarily affects males who inherit the mutated gene from their mothers.
References:
- [5] Description. Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).
- [6] Ritscher-Schinzel syndrome-2 (RTSC2) is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, ...
- [11] Description. Ritscher-Schinzel syndrome-2 (RTSC2) is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczy
Additional Characteristics
- Intellectual disability
- Posterior fossa defects, such as Dandy-Walker malformation and cerebellar vermis hypoplasia
- Cardiac malformations, including tetralogy of Fallot and atrial septal defects
- Minor abnormalities of the face and distal extremities, such as low-set ears, hypertelorism, and down-slanting palpebral fissures
Signs and Symptoms
Ritscher-Schinzel syndrome-2 (RTSC2) is a rare genetic disorder that affects males, characterized by intellectual disability, cardiac defects, and posterior fossa malformations. The cardinal findings include:
- Intellectual Disability: Affected individuals have gross motor and speech delay and intellectual disability [3].
- Cardiac Defects: Cardiovascular anomalies include atrial and ventricular septal defects [3].
- Posterior Fossa Malformations: RTSC2 is associated with posterior fossa defects, which can lead to cerebellar hypoplasia and other related issues.
- Other Clinical Signs: Additional symptoms may include cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures [4].
It's essential to note that RTSC2 is an X-linked recessive syndromic form of intellectual disability, meaning it primarily affects males. Females can be carriers but are less likely to exhibit symptoms.
References: [1] - Not applicable (RTSC2 not mentioned in this context) [2] - Not applicable (RTSC2 not mentioned in this context) [3] - Context 3 [4] - Context 4
Additional Symptoms
- Hypertelorism
- Cleft Palate
- Intellectual Disability
- Cardiac Defects
- Posterior Fossa Malformations
- Ocular Coloboma
- Prominent Occiput
- Low-Set Ears
- Down-slanting Palpebral Fissures
Diagnostic Tests
Ritscher-Schinzel syndrome 2 (RTSC2) is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Molecular Genetic Testing Molecular genetic testing, also known as gene-targeted testing, is a comprehensive approach to diagnosing RTSC2. This type of testing involves analyzing the CCDC22 gene, which is responsible for causing RTSC2 (1). The test can be performed concurrently or serially with other single-gene tests, and it's part of a multigene panel that includes 30 curated genes related to RTSC2 (9).
Prenatal Diagnostic Testing Prenatal diagnostic testing can also be used to diagnose RTSC2. This type of testing is typically performed after an ultrasound examination reveals characteristic major structural anomalies associated with the syndrome, such as heart defects and cerebellar hypoplasia (5). Rapid genome sequencing and RNA analysis provide early diagnosis of RTSC2 for infants (4).
Clinical Features The clinical features of RTSC2 include intellectual disability, posterior fossa defects, cardiac malformations, and cranial dysmorphism. These symptoms can be used to suspect RTSC2 in individuals with a family history of the syndrome or those who have undergone prenatal testing (3).
Genetic Tests Availability Genetic tests for RTSC2 are available from various laboratories around the world, including those in the US. The CCDC22 gene is responsible for causing RT
Additional Diagnostic Tests
- Molecular Genetic Testing
- Prenatal Diagnostic Testing
Treatment
Treatment Options for Ritscher-Schinzel Syndrome 2
Ritscher-Schinzel syndrome 2 (RTSC2) is a rare genetic disorder characterized by intellectual disability, posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. While there is no specific cure for RTSC2, various treatment options can help manage its symptoms and manifestations.
Multidisciplinary Approach
Management of RTSC2 involves a multidisciplinary approach, including:
- Genetic counseling: To understand the genetic basis of the condition and provide guidance on reproductive risks.
- Cardiac evaluation: To assess cardiac malformations and provide appropriate treatment, such as surgery or medication.
- Neurodevelopmental assessment: To evaluate cognitive and motor skills and provide interventions, such as physical, occupational, and speech therapy.
- Orthopedic management: To address musculoskeletal abnormalities and provide supportive care.
Medical Therapies
While there are no specific medications approved for the treatment of RTSC2, various medical therapies can help manage its symptoms:
- Cardiac medications: To manage cardiac malformations, such as hypertension or arrhythmias.
- Muscle relaxants: May be used to manage muscle tone and spasticity.
- Anticonvulsants: May be prescribed to control seizures.
Surgical Interventions
In some cases, surgical interventions may be necessary to address specific manifestations of RTSC2:
- Cardiac surgery: To repair cardiac malformations.
- Orthopedic surgery: To correct musculoskeletal abnormalities.
It is essential to
Recommended Medications
- Muscle relaxants
- Anticonvulsants
- Cardiac medications
💊 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
Ritscher-Schinzel syndrome 2 (RTSC2) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis for RTSC2 includes several syndromes and disorders, which are:
- Joubert syndrome: A rare genetic disorder characterized by brain malformations, intellectual disability, and respiratory problems.
- Ellis Van Creveld syndrome: A genetic disorder that affects the development of bones and cartilage, leading to short stature, heart defects, and other skeletal abnormalities.
- Cornelia de Lange syndrome: A rare genetic disorder that affects physical and mental development, characterized by distinctive facial features, growth delays, and intellectual disability.
- Distal monosomy 6p: A rare chromosomal disorder that results in intellectual disability, delayed speech, and various physical abnormalities.
- Dandy Walker syndrome: A rare genetic disorder that affects the development of the cerebellum and brainstem, leading to intellectual disability, balance problems, and other neurological symptoms.
These conditions can present with similar symptoms to RTSC2, making differential diagnosis crucial for accurate diagnosis and treatment. [1][3][4][5][9]
In addition to these syndromes, RTSC2 has also been associated with cardiac malformations, posterior fossa defects, and intellectual disability. A detailed review of the published cases and differential diagnosis of 3C syndrome is essential for accurate diagnosis and management of RTSC2. [14]
Additional Differential Diagnoses
- Ellis Van Creveld syndrome
- Distal monosomy 6p
- N syndrome
- Joubert syndrome
- Cornelia de Lange syndrome 1
Additional Information
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