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Ritscher-Schinzel syndrome
ICD-10 Codes
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Description
Ritscher-Schinzel syndrome, also known as 3C syndrome, is a rare developmental malformation disorder characterized by craniofacial abnormalities, congenital heart defects, and cerebellar hypoplasia.
Key Features:
- Craniofacial features:
- Prominent occiput (back of the head)
- Forehead abnormalities
- Low-set ears
- Hypertelorism (increased distance between the eyes)
- Down-slanting palpebral fissures (eyelid openings)
- Congenital heart defects: Various types of heart defects have been reported in association with 3C syndrome.
- Cerebellar hypoplasia: Underdevelopment of the cerebellum, which can lead to coordination and balance problems.
Other Associated Features:
- Cleft palate
- Ocular coloboma (a hole or defect in the iris)
- Dandy-Walker-like malformation (a rare brain malformation)
Ritscher-Schinzel syndrome is a rare condition, and its exact incidence is unknown. It is often diagnosed through a combination of clinical evaluation, imaging studies (such as MRI), and genetic testing.
References:
- [1] Ritscher-Schinzel syndrome is also known as the 3C syndrome because it involves principally the cardiac, cerebellar and cranio-facial structures. [9]
- The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar hypoplasia. [5]
- Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial features, including prominent occiput and forehead, low-set ears, hypertelorism, down-slanting palpebral fissures, and other abnormalities. [1]
- 3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. [4]
Additional Characteristics
- hypertelorism (increased distance between the eyes)
- cleft palate
- low-set ears
- Ritscher-Schinzel syndrome
- craniofacial abnormalities
- congenital heart defects
- cerebellar hypoplasia
- prominent occiput (back of the head)
- forehead abnormalities
- Down-slanting palpebral fissures (eyelid openings)
- ocular coloboma (a hole or defect in the iris)
- Dandy-Walker-like malformation
Signs and Symptoms
Ritscher-Schinzel syndrome, also known as 3C syndrome, is a rare developmental malformation syndrome characterized by craniofacial abnormalities, cerebellar defects, and other clinical signs.
Cardinal Findings:
- Craniofacial features:
- Prominent occiput (back of the head) [9]
- Forehead prominence
- Ocular coloboma (a hole in one or both iris)
- Cleft palate [7][8]
- Cerebellar defects:
- Hypoplasia (underdevelopment) of the cerebellum
- Other clinical signs:
- Heart defects, including atrial and ventricular septal defects [1]
- Intellectual disability and gross motor and speech delay [1]
Additional Features:
- Facial features:
- Low-set ears
- Downslanting palpebral fissures (eyes)
- Depressed nasal bridge
- Micrognathia (small jaw) [6][7]
- Other signs:
- Hypospadias (a birth defect of the penis)
- Coloboma of the iris and/or retina
- Congenital glaucoma
- Optic nerve atrophy
- Malrotation of the gut
- Anal atresia [5]
Please note that these signs and symptoms may vary in severity and presentation among individuals with Ritscher-Schinzel syndrome.
Additional Symptoms
- Hypospadias
- Micrognathia
- Cleft palate
- Congenital glaucoma
- Low-set ears
- Heart defects
- Depressed nasal bridge
- Optic nerve atrophy
- Downslanting palpebral fissures
- Prominent occiput
- Forehead prominence
- Ocular coloboma
- Hypoplasia of the cerebellum
- Intellectual disability and gross motor and speech delay
- or retina
- Malrotation of the gut
- Anal atresia
Diagnostic Tests
Ritscher-Schinzel syndrome, also known as 3C syndrome, is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Genomic Testing Comprehensive genomic testing is recommended when the diagnosis of Ritscher-Schinzel syndrome is suspected but not confirmed due to atypical phenotypic features [1]. This type of testing can help identify the underlying genetic cause of the condition.
Prenatal Diagnosis Prenatal diagnosis may be possible through ultrasound examination and genetic testing. Characteristic major structural anomalies, such as craniofacial malformations and cardiac defects, can be detected during pregnancy [2][3].
Molecular Genetic Testing Molecular genetic testing approaches can include gene-targeted testing, multigene panel testing, or rapid genome sequencing and RNA analysis [4][5]. These tests can help confirm the diagnosis of Ritscher-Schinzel syndrome.
Brain Imaging Brain imaging studies, such as MRI scans, can show characteristic malformations, including Dandy-Walker malformation and cerebellar vermis hypoplasia [3].
In summary, diagnostic tests for Ritscher-Schinzel syndrome may include:
- Comprehensive genomic testing
- Prenatal diagnosis through ultrasound examination and genetic testing
- Molecular genetic testing approaches, such as gene-targeted testing or rapid genome sequencing and RNA analysis
- Brain imaging studies to detect characteristic malformations
References: [1] Context 1: When the diagnosis of Ritscher-Schinzel syndrome is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which ... [2] Context 2: Prenatal diagnosis may be suspected after an ultrasound examination revealing characteristic major structural anomalies of 3C syndrome. [3] Context 4 and 5: Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, ... [4] Context 7: by AM Elliott · 2020 · Cited by 2 — Molecular genetic testing approaches can include a combination of gene-targeted testing (concurrent or serial single-gene testing, multigene ... [5] Context 8: by L Rust · 2024 — P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype.
Additional Diagnostic Tests
- Comprehensive genomic testing
- Prenatal diagnosis through ultrasound examination and genetic testing
- Molecular genetic testing approaches (gene-targeted testing or rapid genome sequencing and RNA analysis)
- Brain imaging studies to detect characteristic malformations
Treatment
Treatment Overview
Ritscher-Schinzel syndrome, also known as cranio-cerebro-cardiac dysplasia, is a rare genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatments can help manage its manifestations and improve quality of life.
Medical Management
According to Orphanet [1], management of Ritscher-Schinzel syndrome focuses on treating specific symptoms and complications. This may include:
- Cardiac issues: Prophylactic antibiotics are recommended in cases of cardiopathy as indicated [9].
- Muscle relaxation: Muscle relaxants should be avoided until airway is secured and ventilation confirmed [9].
Therapeutic Approaches
A study by MN Konya [4] highlights the importance of treatment in Cystic Fibrosis (CF), which shares some similarities with Ritscher-Schinzel syndrome. The purpose of treatment in CF is to obtain a normal anatomy as closest, gain mobility, and have a painless foot.
Genetic Counseling
Accurate genetic diagnosis and counseling are crucial for individuals with Ritscher-Schinzel syndrome [7]. This can help families understand the condition's inheritance pattern and make informed decisions about their reproductive choices.
Other Considerations
While there is no specific treatment for Ritscher-Schinzel syndrome, a multidisciplinary approach involving healthcare professionals from various specialties may be necessary to manage its complex manifestations. It is essential to consult with a healthcare professional for medical advice and treatment [10].
References:
[1] Orphanet summary [4] MN Konya (2015) [7] ML Leonardi (2001) [9] Context result 9 [10] Context result 10
Recommended Medications
- Muscle relaxants
- Prophylactic antibiotics
💊 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, also known as 3C syndrome, is a rare genetic disorder that affects multiple systems in the body. When diagnosing this condition, it's essential to consider differential diagnoses to rule out other possible causes of similar symptoms.
According to various medical sources [1][2], the differential diagnosis for Ritscher-Schinzel syndrome includes:
- Joubert syndrome: A rare genetic disorder characterized by brain malformations and eye abnormalities.
- Ellis Van Creveld syndrome: A genetic disorder that affects the development of bones, particularly in the hands and feet.
- Other cardiac defects: Such as septal defects and aortic stenosis [3][4].
- Brain imaging findings: Including Dandy-Walker malformation, cerebellar vermis hypoplasia, and other structural abnormalities [5].
It's crucial to note that Ritscher-Schinzel syndrome is often misdiagnosed due to its rarity and the presence of atypical phenotypic features. Comprehensive genomic testing can help confirm the diagnosis by identifying mutations in specific genes associated with this condition [2].
References:
[1] Context result 3 [2] Context result 9 [3] Context result 6 [4] Context result 10 [5] Context result 6
Additional Differential Diagnoses
- Ellis Van Creveld syndrome
- Other cardiac defects
- Brain imaging findings: Including Dandy-Walker malformation, cerebellar vermis hypoplasia, and other structural abnormalities
- Joubert syndrome
Additional Information
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- craniocerebellocardiac dysplasia
- IAO_0000115
- A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
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