cranioectodermal dysplasia 2

Cranioectodermal dysplasia 2, also known as CED2, is a rare genetic disorder that affects the development of various parts of the body.

Key Features:

• Skeletal abnormalities: Narrow thorax, shortened proximal limbs, syndactyly (webbed fingers or toes), polydactyly (extra fingers or toes), and brachydactyly (short fingers) are common features of CED2 [1][4].
• Craniofacial abnormalities: Dolichocephaly (long head shape), craniosynostosis (premature fusion of skull bones), and other facial anomalies may be present [5][6].

Other Characteristics:

• Short stature is a common feature in individuals with CED2 [5].
• Joint laxity, or loose joints, can also occur [5].
• The disorder is caused by mutations in the WDR35 gene [8].

It's essential to note that cranioectodermal dysplasia 2 is a rare and heterogeneous condition, and its manifestations may vary from person to person.

Signs and Symptoms of Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED) is a rare genetic disorder that affects the development of ectodermal tissues, leading to various physical abnormalities. The signs and symptoms of CED can vary in severity and presentation, but here are some common features:

• Sparse hair: People with CED often have sparse or thinning hair due to abnormal development of ectodermal tissues [1][2][3].
• Small or missing teeth: Abnormal tooth development is a characteristic feature of CED, leading to small or missing teeth [4][5].
• Short fingernails and toenails: Individuals with CED may have short or abnormally shaped fingernails and toenails [2].
• Distinctive facial abnormalities: CED can cause distinctive facial features, including a high forehead, prominent auricles (ears), and a narrow thorax [6][7].
• Short stature and limbs: People with CED often have short stature and limbs, which can be accompanied by skeletal abnormalities such as syndactyly (webbed fingers or toes) and polydactyly (extra fingers or toes) [4][5].
• Other systemic features: In some cases, CED can lead to other systemic features, including nephronophthisis (kidney disease), hepatic fibrosis (liver scarring), heart defects, and retinitis pigmentosa (eye degeneration) [6].

It's essential to note that the severity and presentation of these symptoms can vary significantly among individuals with CED. If you or someone you know is suspected to have this condition, consult a medical professional for proper diagnosis and care.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 5 [5] Context result 8 [6] Context result 4 [7] Context result 9

Cranioectodermal dysplasia 2 (CED2) is a rare genetic disorder that affects multiple systems in the body. Diagnostic tests for CED2 are crucial for accurate diagnosis and management of the condition.

Imaging Studies

• Ultrasonography: This imaging technique can help detect potential renal and liver anomalies associated with CED2 [1].
• Eye fundus examination: Ocular anomalies can be detected through eye fundus examination, which is essential for diagnosing CED2 [1].

Laboratory Findings

• Urine analysis: Laboratory findings such as urine analysis can aid in detecting potential renal anomalies in individuals with CED2 [1].
• Serum electrolytes and lipid profile: These laboratory tests can help identify potential liver anomalies associated with CED2 [1].

Genetic Testing

• Gene-targeted testing: Individuals with distinctive findings suggestive of CED2 are likely to be diagnosed using gene-targeted testing, which involves analyzing the WDR35 gene for mutations [3].

Other Diagnostic Tests

• Histological examination: This test can help identify potential tissue anomalies associated with CED2.
• Liver and renal function tests: These tests can aid in detecting potential liver and renal dysfunction in individuals with CED2.

It is essential to note that a combination of these diagnostic tests, along with clinical examination, can provide an accurate diagnosis of CED2. A healthcare professional or a genetic counselor should be consulted for further guidance on diagnostic testing and management of the condition.

References: [1] - Search result 1: Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead ... [3] - Search result 3: by W Tan · 2022 · Cited by 1 — Individuals with distinctive findings suggestive of CED2 are likely to be diagnosed using gene-targeted testing, which involves analyzing the WDR35 gene for mutations.

Treatment Options for Cranioectodermal Dysplasia 2 (CED2)

Cranioectodermal dysplasia 2, also known as CED2, is a rare genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatment options are available to manage its symptoms and complications.

Medical Management

According to search result [1], renal function rapidly deteriorates in many cases of CED2, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, followed by dialysis or renal transplantation. This highlights the importance of early intervention and close monitoring of kidney function in individuals with CED2.

Surgical Interventions

Search result [8] mentions that surgical correction may be needed for sagittal craniosynostosis, a common feature of CED2. Surgery to correct this condition is usually performed before age one year. Additionally, other surgical interventions may be required to address various manifestations of the disorder.

Other Treatment Options

While specific treatment options are not mentioned in the search results provided, it is essential for individuals with CED2 to work closely with their healthcare providers to develop a personalized treatment plan. This may involve a multidisciplinary approach, incorporating expertise from various medical specialties.

Consultation with Healthcare Professionals

It is crucial to consult with a healthcare professional for medical advice and treatment specific to each individual's needs. Search results [5] and [9] emphasize the importance of seeking expert guidance in managing CED2.

References: [1] - Nov 1, 2013 [8] - by W Tan · 2021 · Cited by 46

Differential Diagnosis of Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects. When diagnosing CED, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for CED:

• Sensenbrenner syndrome: This condition also presents with craniofacial, skeletal, and ectodermal abnormalities, making it a potential differential diagnosis for CED [6].
• ATD-JS (Achondroplasia-type short stature): Individuals with ATD-JS may exhibit similar features to those with CED, including short stature and skeletal abnormalities [6].
• SRPS (Short-rib polydactyly syndrome): This condition is characterized by short ribs, polydactyly, and other skeletal anomalies, which can be similar to the skeletal defects seen in CED [6].
• MKS (Meckel-Gruber syndrome): MKS is a rare disorder that presents with cystic kidneys, hepatic abnormalities, and other congenital defects, some of which may overlap with those seen in CED [7].
• Nephronophthisis: This condition is characterized by kidney disease and other systemic anomalies, which can be similar to the nephronophthisis seen in CED [8].

It's essential to note that a comprehensive diagnosis of CED requires a thorough evaluation of clinical features, radiographic findings, and genetic testing. A detailed differential diagnosis should consider these factors to ensure accurate identification of the condition.

References:

[6] by AE Lin · 2013 · Cited by 79 — Differential Diagnosis. [7] by J Walczak-Sztulpa · 2010 · Cited by 222 — Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. [8] Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects, nephronophthisis, hepatic ...