cranioectodermal dysplasia 1

Cranioectodermal Dysplasia: A Rare Developmental Disorder

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features [2]. The condition affects multiple parts of the body, including the bones, skin, hair, nails, and eyes.

Common Features:

• Bone abnormalities, such as narrow thorax, shortened proximal limbs, syndactyly (webbed fingers or toes), polydactyly (extra fingers or toes) [5]
• Craniofacial abnormalities, including dolichocephaly (long head shape) with or without sagittal suture closure [6][8]
• Ectodermal defects, such as skin and hair abnormalities

Inheritance:

CED is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [3][7].

References:

[1] - Not provided in context [2] Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features. [3] Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and ... [5] Sep 12, 2013 — Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly ... [6] A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture ... [7] by J Walczak-Sztulpa · 2010 · Cited by 222 — Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. [8] A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture ...

Distinctive Abnormalities Associated with Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder characterized by distinctive abnormalities in various parts of the body. The signs and symptoms of this condition can vary among affected individuals, even within the same family.

Common Signs and Symptoms:

• Facial Abnormalities: Distinctive facial features are often observed, including dolichocephaly (long head shape), scaphocephaly (boat-shaped head), and epicanthic folds.
• Skeletal Involvement: Short stature, limb shortening, short ribs, narrow chest, brachydactyly (short fingers), and polydactyly (extra fingers or toes) are common skeletal abnormalities.
• Renal and Hepatic Abnormalities: Renal failure and hepatic dysfunction can occur in individuals with CED.
• Ectodermal Tissue Abnormalities: Sparse hair, abnormal skin texture, and other ectodermal tissue abnormalities may also be present.

Additional Features:

• Sagittal craniosynostosis (premature fusion of the skull bones) leading to dolichocephaly
• Mild rhizomelic shortness of the limbs with flaring of the metaphyses
• Short stature and limb shortening

These distinctive abnormalities can vary in severity and presentation among affected individuals, making diagnosis and management challenging. [3][4][5][6][7][8]

Diagnostic Tests for Cranioectodermal Dysplasia 1

Cranioectodermal dysplasia 1 (CED1) is a rare genetic disorder that affects multiple parts of the body. Diagnostic tests are essential to confirm the presence of this condition. Here are some diagnostic tests used to diagnose CED1:

• Gene-targeted testing: This test involves analyzing the WDR35 gene, which is associated with CED1. Gene-targeted testing can be performed using various methods, including sequencing and deletion/duplication analysis [1].
• Chromosome analysis: While chromosome analysis may not provide any specific information about CED1, it can rule out other genetic conditions that may present similar symptoms [6].
• Molecular diagnosis: This test involves analyzing the WDR35 gene to confirm the presence of mutations associated with CED1. Molecular diagnosis is a more accurate and reliable method for diagnosing CED1 compared to chromosome analysis [7].

Other Diagnostic Tests

While not specific to CED1, other diagnostic tests may be used to assess the symptoms and complications associated with this condition. These include:

• Imaging studies: Imaging studies such as X-rays, CT scans, or MRI scans can help identify bone abnormalities and other physical features associated with CED1 [4].
• Physical examination: A thorough physical examination by a healthcare professional can help identify characteristic features of CED1, such as dolichocephaly (long head shape) and sagittal craniosynostosis [5].

References

[1] Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1).

[4] Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and ...

[5] A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture ...

[6] by AE Lin · 2013 · Cited by 79 — Normal or uninformative diagnostic test results included chromosome analysis (46,XX), methylation analysis (to test for Prader-Willi syndrome), ...

[7] Homepage > Diagnostic tests ... Diagnosis of cranioectodermal dysplasia (WDR35 gene: sequencing) ... Molecular diagnosis of Cranioectodermal Dysplasia type 1-4 ( ...

Treatment Options for Cranioectodermal Dysplasia

Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body. While there is no specific "cure" for this condition, various treatment options are available to manage its symptoms and complications.

• Surgical Correction: One of the primary treatments for cranioectodermal dysplasia is surgical correction of sagittal craniosynostosis, which is a common feature of this disorder. Surgery is usually performed before the age of one year to correct the skull shape and prevent further complications [2][3].
• Management of Renal Function: In many cases, renal function rapidly deteriorates in individuals with cranioectodermal dysplasia, requiring treatment to manage kidney problems [1].
• Other Treatments: Depending on the specific symptoms and complications present, other treatments such as medication or supportive care may be necessary. However, these are typically managed on a case-by-case basis by healthcare professionals.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances [9].

References: [1] Context result 1 [2] Context result 2 [3] Context result 5

Differential Diagnosis of Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis, and ocular anomalies. The differential diagnosis of CED includes several other disorders that can present with similar symptoms.

Similar Disorders:

• Jeune syndrome: This is a rare genetic disorder characterized by short-limbed dwarfism, narrow thorax, and other skeletal abnormalities. It can be distinguished from CED by the presence of polydactyly (extra fingers or toes) in Jeune syndrome.
• Sensenbrenner syndrome: Also known as cranioectodermal dysplasia, this is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. It can be distinguished from CED by the presence of characteristic facial features, such as frontal bossing and low-set simple ears.
• Nephronophthisis: This is a rare genetic disorder characterized by kidney disease and other systemic symptoms. It can be distinguished from CED by the absence of ectodermal defects and dysmorphic features.

Key Features to Consider:

When considering the differential diagnosis of cranioectodermal dysplasia, it is essential to consider the following key features:

• Congenital skeletal and ectodermal defects
• Dysmorphic features
• Nephronophthisis
• Hepatic fibrosis
• Ocular anomalies (mainly retinitis pigmentosa)

References:

[1] Huber & Cormier-Daire 2012 - CED is part of a spectrum of disorders caused by disruption of the cilium, an organelle of the cell that appears and functions as an antenna. [14] Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.

Note: The references provided are based on the information available in the search results.