cranioectodermal dysplasia 4

Cranioectodermal Dysplasia (CED) - Description

Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that primarily affects the skeletal and ectodermal systems. The condition is characterized by:

• Skeletal abnormalities: Narrow rib cage, short limbs, brachydactyly (short fingers), and craniosynostosis (premature closure of the skull bones)
• Ectodermal defects: Hypoplastic teeth, hypodontia (missing teeth), sparse hair, skin laxity, and abnormal nails
• Dysmorphic features: Frontal bossing, low-set simple ears, high forehead, and other facial abnormalities
• Organ involvement: Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa (a condition affecting the retina)

This rare developmental disorder is caused by mutations in one of several genes, including WDR35, IFT122, WDR19, or IFT43. The symptoms and severity of CED can vary among affected individuals.

References: * [1] - Cranioectodermal dysplasia (CED) is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, brachydactyly, and ectodermal defects. * [6] - The disorder presents with craniofacial, skeletal, and ectodermal abnormalities such as hypoplastic teeth, sparse hair, skin laxity, and abnormal nails. * [10] - Clinical Description. Cranioectodermal dysplasia (CED) is a ciliopathy with significant involvement of the skeleton, ectoderm (teeth, hair, and nails), retina, kidneys, liver, lungs, and occasionally the brain.

Distinctive Abnormalities Associated with Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED) is a complex disorder characterized by various distinctive abnormalities. According to the available information, some of the notable signs and symptoms associated with this condition include:

• Dysmorphic features: Epicanthic folds, hypotelorism, anteverted nares, and everted lower lip are commonly observed in individuals affected by CED.
• Sparse hair and abnormal ectodermal tissues: Abnormal development of ectodermal tissues can lead to sparse hair, small or missing teeth, short fingernails, and other related issues.
• Nephronophthisis leading to progressive renal failure: This condition can also result in the development of nephronophthisis, which may progress to renal failure if left untreated.
• Hepatic fibrosis, heart defects, and retinitis pigmentosa: In some cases, CED has been associated with hepatic fibrosis, heart defects, and retinitis pigmentosa, further highlighting its complex nature.

These symptoms can vary among affected individuals, even within the same family, making it essential for accurate diagnosis and management.

Diagnostic Tests for Cranioectodermal Dysplasia 4

Cranioectodermal dysplasia 4 (CED4) is a rare genetic disorder, and accurate diagnosis is crucial for proper management. Here are the diagnostic tests available for CED4:

• Genetic Testing: Genetic testing is the primary method of diagnosing CED4. This involves analyzing the WDR19 gene to confirm the presence of mutations associated with the condition [1][2]. Genetic analysis can be performed through various methods, including Next-Generation Sequencing (NGS) and Sanger sequencing [3].
• Clinical Evaluation: A thorough clinical evaluation is essential for diagnosing CED4. This includes a detailed medical history, physical examination, and assessment of symptoms such as craniofacial abnormalities, skeletal dysplasia, and other systemic features [5].

Recommended Diagnostic Approach

The recommended diagnostic approach for CED4 involves genetic testing followed by clinical evaluation. Genetic analysis can provide a molecular diagnosis, which can be used to guide further management and counseling [7]. A multidisciplinary team of healthcare professionals, including geneticists, pediatricians, and other specialists, should be involved in the diagnostic process.

References

[1] Clinical resource with information about Cranioectodermal dysplasia 4 and its clinical features, WDR19, available genetic tests from US and labs around the ...

[2] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

[3] WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic DNA Test ... diagnosis through genetic testing can allow for genetic counseling and may direct medical ...

[5] Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily ...

[7] WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic DNA Test ... diagnosis through genetic testing can allow for genetic counseling and may direct medical ...

Based on the search results, it appears that there are limited treatment options available for cranioectodermal dysplasia 4 (CED4). However, here are some potential treatment approaches mentioned in the search results:

• Growth hormone therapy: One individual with CED4 was reported to have received growth hormone therapy, which resulted in her height attaining the 10th centile [4].
• Surgery: Surgical correction may be needed for manifestations such as sagittal craniosynostosis, usually before age one year [6][7]. Additionally, surgery may be required to correct other skeletal abnormalities.
• Treatment of metabolic acidosis and renal function: In advanced stages of CED, treatment per hepatologist may involve liver transplantation. Progressive visual impairment can also occur, and low-vision aids may be necessary [3].
• Management of kidney disease: Nephronophthisis, a kidney disorder associated with CED, can lead to end-stage renal disease. Management of this condition is crucial to prevent life-threatening complications.

It's essential to note that these treatment approaches are based on individual case reports and may not be applicable to all individuals with cranioectodermal dysplasia 4. A healthcare provider should be consulted for personalized advice and guidance.

References:

[3] Treatment per hepatologist, Liver transplantation is treatment option in advanced stages. [4] Growth hormone therapy was used to treat short stature. [6][7] Surgical correction may be needed for sagittal craniosynostosis. [13] Management of kidney disease and other complications associated with CED.

Cranioectodermal dysplasia (CED) 4, also known as CED4, is a rare genetic disorder that affects multiple systems in the body. When considering the differential diagnosis for CED4, several other conditions should be taken into account.

• Sensenbrenner syndrome: This condition shares similarities with CED4, particularly in terms of craniofacial and skeletal abnormalities [1]. However, Sensenbrenner syndrome is caused by mutations in a different gene.
• ATD-JS (Arthrogryposis, Tapetoretinal degeneration, and Joubert syndrome): This condition presents with similar ectodermal and skeletal features as CED4. However, ATD-JS is characterized by additional symptoms such as tapetoretinal degeneration [2].
• SRPS (Short-rib polydactyly syndrome): SRPS is a group of disorders that share similarities with CED4 in terms of skeletal abnormalities and polydactyly. However, SRPS is caused by mutations in different genes.
• MKS (Meckel-Gruber syndrome): MKS is a rare genetic disorder characterized by cystic kidneys, polydactyly, and other ectodermal features similar to CED4 [3].
• Other ciliopathies: As CED4 is caused by disruptions in the cilium, it is essential to consider other ciliopathies that may present with similar symptoms. These include conditions such as nephronophthisis and hepatic fibrosis [4].

It's worth noting that a definitive diagnosis of CED4 can only be made through genetic analysis.

References:

[1] Table II from context result 5 [2] Context result 6 [3] Context result 7 [4] Context result 9