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cranioectodermal dysplasia 3
Description
Cranioectodermal Dysplasia 3 (CED3) Description
Cranioectodermal dysplasia 3, also known as CED3, is a rare genetic disorder that affects multiple parts of the body. The condition is characterized by craniofacial, skeletal, and ectodermal abnormalities.
Key Features:
- Craniosynostosis (premature fusion of bones in the skull)
- Narrow rib cage
- Shortened proximal limbs
- Syndactyly (webbed fingers or toes)
- Polydactyly (extra fingers or toes)
- Brachydactyly (short fingers)
Causes:
CED3 is caused by a mutation in the IFT43 gene, which plays a crucial role in ciliary function and development.
References:
- [7] describes CED3 as a disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities.
- [7] also mentions that CED3 is caused by a mutation in the IFT43 gene.
Additional Characteristics
- Brachydactyly (short fingers)
- Polydactyly (extra fingers or toes)
- Syndactyly (webbed fingers or toes)
- Narrow rib cage
- Craniosynostosis (premature fusion of bones in the skull)
- Shortened proximal limbs
Signs and Symptoms
Signs and Symptoms of Cranioectodermal Dysplasia
Cranioectodermal dysplasia is a rare genetic disorder that affects various parts of the body. The signs and symptoms of this condition can vary among affected individuals, even within the same family.
- Abnormality of head or neck: This can manifest as distinctive facial abnormalities.
- Everted lower lip vermilion: A characteristic feature of cranioectodermal dysplasia.
- Abnormality of limbs: Short limbs are a common feature, with some individuals experiencing 2-3 toe syndactyly (a condition where two or more toes are fused together).
- Abnormality of the cardiovascular system: Some individuals may experience heart defects.
These symptoms can be present at birth and may become more apparent as the individual grows and develops. It's essential to note that each person with cranioectodermal dysplasia may exhibit a unique combination of these signs and symptoms.
References: * [1] Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short stature, and other abnormalities. * [3] Clinical features · Abnormality of head or neck. Everted lower lip vermilion · Abnormality of limbs. 2-3 toe syndactyly · Abnormality of the cardiovascular system. * [4] The condition presents with distinctive facial abnormalities, short limbs, short stature, and abnormalities in ectodermal tissues like sparse hair and abnormal teeth.
Additional Symptoms
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Sparse hair
- Everted lower lip vermilion
- Small or missing teeth
- Short limbs with 2-3 toe syndactyly
- short stature
Diagnostic Tests
Diagnostic Tests for Cranioectodermal Dysplasia 3
Cranioectodermal dysplasia 3 (CED3) is a rare genetic disorder that affects multiple parts of the body. Diagnostic testing plays a crucial role in confirming the presence of this condition.
- Carrier Testing: Carrier testing can be performed on at-risk relatives to identify individuals who carry the mutated IFT43 gene, which causes CED3 [1].
- Prenatal Testing: Prenatal testing can be conducted during pregnancy if there is an increased risk of CED3. This involves analyzing fetal cells for the presence of the mutated IFT43 gene [1].
- Preimplantation Genetic Testing (PGT): PGT can also be performed on embryos created through in vitro fertilization (IVF) to detect the presence of the mutated IFT43 gene and prevent its transmission to offspring [1].
- Clinical Genetic Tests: Clinical genetic tests, such as targeted mutation analysis and next-generation sequencing (NGS), are available for diagnosing CED3. These tests can identify mutations in the IFT43 gene associated with this condition [4], [9].
- Systemic Diagnostic Evaluations: Systemic diagnostic evaluations, including baseline liver and renal function tests and imaging studies, may be performed to assess the overall health of individuals suspected to have CED3 [7].
It's essential to consult a genetic counselor or a healthcare professional for guidance on the most suitable diagnostic testing approach for an individual with suspected CED3.
References:
[1] W Tan (2022) - Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible once the mutated IFT43 gene is identified. [4] Clinical Genetic Test offered by Intergen for conditions (1): Cranioectodermal dysplasia 3; Testing genes (1): IFT43 (14q24.3); Methodology includes targeted mutation analysis and NGS sequencing. [7] AE Lin (2013) - Systemic diagnostic evaluations such as baseline liver and renal function tests and imaging, and special testing such as electroretinogram may be performed to assess the overall health of individuals suspected to have CED3. [9] Homepage > Diagnostic tests ... Targeted mutation analysis NGS sequencing (except WES) (3) ... Diagnosis of cranioectodermal dysplasia (IFT122, IFT43, WDR19, WDR35).
Additional Diagnostic Tests
- Preimplantation Genetic Testing (PGT)
- Clinical Genetic Tests
- Prenatal Testing
- Systemic Diagnostic Evaluations
- Carrier Testing
Treatment
Treatment Options for Cranioectodermal Dysplasia 3
Cranioectodermal dysplasia 3 (CED3) is a rare genetic disorder that affects multiple systems in the body. While there is no specific cure for CED3, various treatment options can help manage its symptoms and improve quality of life.
- Surgery: Surgical correction may be needed to address craniosynostosis, a condition where the bones of the skull fuse together prematurely. This surgery is usually performed before age one year [6][10].
- Growth hormone therapy: In some cases, growth hormone therapy may be prescribed to treat short stature associated with CED3 [9].
- Other treatments: As needed, other surgical interventions or therapies may be recommended to address specific symptoms and manifestations of CED3.
It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help develop a comprehensive care plan tailored to the individual's needs.
References:
[6] Treatment of manifestations: As needed, surgery to correct sagittal craniosynostosis usually before age one year. Surgical correction may be needed for other symptoms [6].
[9] Short stature was treated with growth hormone therapy, after which her height attained the normal range [9].
[10] Treatment of manifestations: As needed, surgery to correct sagittal craniosynostosis usually before age one year. Surgical correction may be needed for other symptoms [10].
Recommended Medications
- Surgery
- Growth hormone 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 Diagnosis of Cranioectodermal Dysplasia
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects, nephronophthisis, hepatic fibrosis, and other systemic features. When diagnosing CED, it's essential to consider the differential diagnosis, which includes other syndromes with similar phenotypic features.
Syndromes to Consider:
- Sensenbrenner syndrome: This syndrome is characterized by ectodermal dysplasia, skeletal abnormalities, and renal disease. It shares some similarities with CED, but it's essential to note that Sensenbrenner syndrome typically presents with more severe ectodermal involvement [6].
- ATD-JS (Arthrogryposis-Type Dysplasia-Joint Syndrome): This rare disorder is characterized by congenital joint contractures and skeletal abnormalities. While it shares some similarities with CED, ATD-JS typically presents with more pronounced musculoskeletal features [6].
- SRPS (Short-Rib Polydactyly Syndrome): This syndrome is characterized by short ribs, polydactyly, and other skeletal abnormalities. It's essential to consider SRPS in the differential diagnosis of CED, as both conditions share some similarities in their skeletal manifestations [6].
- MKS (Meckel-Gruber Syndrome): This rare disorder is characterized by cystic kidneys, polydactyly, and other systemic features. While it shares some similarities with CED, MKS typically presents with more pronounced renal involvement [6].
Key Features to Consider:
When considering the differential diagnosis of CED, it's essential to note the following key features:
- Ectodermal abnormalities: Both Sensenbrenner syndrome and SRPS present with ectodermal dysplasia, which is a hallmark feature of CED.
- Skeletal abnormalities: ATD-JS and MKS share some similarities with CED in their skeletal manifestations.
- Renal disease: All four syndromes (Sensenbrenner syndrome, ATD-JS, SRPS, and MKS) can present with renal involvement.
Conclusion:
In conclusion, when diagnosing cranioectodermal dysplasia (CED), it's essential to consider the differential diagnosis, which includes other syndromes with similar phenotypic features. By considering these key features and syndromes, clinicians can accurately diagnose CED and provide appropriate management for affected individuals.
References:
[6] by AE Lin · 2013 · Cited by 79 — Differential Diagnosis. In addition to the syndromes listed on Table II, with comparison of Sensenbrenner syndrome to ATD-JS, SRPS, MKS, and ... [8] Dec 6, 2014 — Differential Diagnosis. CED should be distinguished from other syndromes with ectodermal abnormalities by the presence of the typical ... [9] by W Tan · 2021 · Cited by 46 — Differential Diagnosis. Cranioectodermal dysplasia (CED) is part of a spectrum of disorders caused by disruption of the cilium, an organelle of the cell that ...
Additional Differential Diagnoses
- SRPS (Short-Rib Polydactyly Syndrome)
- N syndrome
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