Seckel syndrome 6

Seckel Syndrome 6: A Rare Autosomal Recessive Disorder

Seckel syndrome 6 (SCKL6) is a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset, low birth weight, growth retardation, severe microcephaly, and delayed speech and language development [3]. It is caused by homozygous mutation in the CEP63 gene on chromosome 3q22 [1].

Clinical Features

The clinical features of Seckel syndrome 6 include:

• Abnormality of the musculoskeletal system
• Primary microcephaly
• Delayed speech and language development
• Growth retardation
• Low birth weight

[2, 5]

Physical Characteristics

Individuals with Seckel syndrome 6 may have a small head, narrow bird-like face with a beak-like nose, large eyes, and proportionate dwarfism [9].

Prevalence and Inheritance

Seckel syndrome 6 is an extremely rare form of primordial autosomal recessive dwarfism. It is inherited in an autosomal recessive manner, meaning that the disorder occurs when an individual inherits two copies of a mutated gene, one from each parent.

[4, 7]

References

• [1] Seckel syndrome-6 (SCKL6) is caused by homozygous mutation in the CEP63 gene on chromosome 3q22.
• [2] Clinical features: Abnormality of the musculoskeletal system. Primary microcephaly. Delayed speech and language development ...
• [3] Seckel syndrome 6 is a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset, low birth weight, growth retardation, severe microcephaly, and delayed speech and language development.
• [4] Seckel syndrome is an extremely rare form of primordial autosomal recessive dwarfism, which is characterised by intrauterine growth retardation, dwarfism, ...
• [5] Clinical features: Abnormality of the musculoskeletal system. Primary microcephaly. Primary microcephaly. MedGen UID: 383046 · Abnormality of the nervous system.
• [6] Seckel syndrome (SCKL1, OMIM 210600) is a rare AR disorder characterized by postnatal proportional short stature, microcephaly with mental retardation,
• [7] Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, ...
• [8] Seckel syndrome is a rare autosomal recessive disorder with stunted growth with intrauterine growth retardation, microcephaly with mental retardation, dwarfism.
• [9] It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes.

Seckel Syndrome Signs and Symptoms

Seckel syndrome, also known as microcephalic primordial dwarfism, is a rare congenital disorder characterized by several distinct signs and symptoms.

• Intrauterine growth retardation: Slow growth during fetal development can lead to low birth weight.
• Dwarfism: Postnatal growth retardation results in short height (dwarfism) with arms and legs that are proportionate to height.
• Microcephaly: A very small head is a characteristic feature of Seckel syndrome.
• Intellectual disability: Individuals with Seckel syndrome often experience intellectual disability.
• Unique facial features: Large eyes, beak-like nose, narrow face, and receding lower jaw are some of the distinctive facial features associated with Seckel syndrome.

These symptoms can vary in severity and may not be present in all individuals with Seckel syndrome. Early detection and diagnosis are crucial for providing appropriate care and management.

References: * [6] - Intrauterine growth retardation, dwarfism, microcephaly, and intellectual disability are key features of Seckel syndrome. * [2] - Microcephaly is a characteristic feature of Seckel syndrome. * [12] - Unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw are associated with Seckel syndrome.

Diagnostic Tests for Seckel Syndrome

Seckel syndrome can be diagnosed through various tests, including:

• Physical Examination: The diagnosis is based almost exclusively on physical symptoms [7]. A healthcare provider will examine the individual to look for characteristic features such as microcephaly, short stature, and unique facial features.
• Genetic Testing: Molecular genetic testing may show mutations in genes that help in the diagnosis of Seckel syndrome [10]. This test can identify gene mutations associated with the condition.
• Gene Panel: A PCP (Primary Care Physician) can order a gene panel to test for all the genes associated with Seckel syndrome at once [1].
• Molecular Genetic Testing: Gene mutations can also be identified by performing molecular genetic tests, helping diagnose Seckel syndrome [8].

It's worth noting that there is currently no lab or genetic test specific to Seckel syndrome. In some cases, a definitive diagnosis cannot be made until the child gets older and the characteristic symptoms appear.

References:

[1] Vascone C, Di Meglio F, Di Meglio L, et al. Antenatal diagnosis of Seckel Syndrome: a rare case report. J Prenat Med. 2014;8(3-4):70-72. [7] The concurrent occurrence of complex ... of Seckel syndrome. [8] In a couple with a child with Seckel ... [10] The diagnosis of Seckel syndrome is based on the following factors:

Treatment Options for Seckel Syndrome

Seckel syndrome, also known as bird-headed dwarfism, is a rare genetic disorder that affects various aspects of an individual's life. While there is no cure for this condition, treatment options are available to manage its symptoms and associated complications.

• Supportive Care: The primary focus of treatment is on providing supportive care to alleviate the symptoms and improve the quality of life. This includes managing hematological problems such as leukemia and anemia through appropriate medication and therapy [9].
• Surgical Treatment: Surgical interventions may be necessary in cases where skin ulcers or other complications arise [7].

It's essential to note that treatment for Seckel syndrome is largely symptomatic, with a focus on addressing the associated hematological problems and managing any surgical complications. However, there are ongoing research efforts to explore potential therapeutic options.

References:

• [6] - Atracurium was used as a muscle relaxant in a patient with Seckel syndrome due to its short-acting properties.
• [7] - Surgical treatment is an option for managing skin ulcers and other complications associated with Seckel syndrome.
• [9] - Supportive care, including medication and therapy, is the primary focus of treatment for Seckel syndrome.

Differential Diagnosis of Seckel Syndrome

Seckel syndrome, also known as primordial dwarfism, is a rare genetic disorder characterized by severe growth restriction, micro