Seckel syndrome 2

Seckel Syndrome 2 Description

Seckel syndrome 2, also known as autosomal recessive primordial dwarfism, is a rare genetic disorder characterized by severe growth retardation and microcephaly (small head size) [4]. Individuals with this condition often have a characteristic facial appearance, which may include a bird-headed like appearance [5].

The symptoms of Seckel syndrome 2 typically become apparent during fetal development or shortly after birth. Infants born with this condition are usually small in size and fail to grow normally after birth [8]. They may also experience mental retardation and have a proportionate dwarfism, meaning that their body proportions are normal but they are significantly smaller than average.

It's worth noting that Seckel syndrome 2 is an extremely rare form of primordial autosomal recessive dwarfism, with only a few reported cases in the medical literature [6]. As such, there may be limited information available on this specific condition.

Seckel Syndrome Signs and Symptoms

Seckel syndrome, also known as SCKL1, is a rare autosomal recessive disorder characterized by several distinct signs and symptoms.

• Prenatal and Postnatal Growth Retardation: Individuals with Seckel syndrome experience severe microcephaly (small head size), prenatal growth restriction, and postnatal dwarfism [3].
• Facial Features: The condition is marked by a bird-like face appearance, narrow facial structure, beak-like nose, and large eyes [6].
• Intellectual Disability: Developmental delays and intellectual disability tend to be severe in individuals with Seckel syndrome [8].
• Microcephaly: A small head size is a characteristic feature of the condition.
• Dwarfism: Postnatal dwarfism is another hallmark of Seckel syndrome.

These signs and symptoms are often present from birth, making early diagnosis crucial for providing appropriate care and support to affected individuals.

Diagnostic Tests for Seckel Syndrome 2

Seckel syndrome 2, also known as RBBP8-related Seckel syndrome, is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance. Diagnostic tests can be done to confirm the diagnosis.

Genetic Testing

Genetic testing can be done to confirm the diagnosis of Seckel syndrome 2. A gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of Seckel Syndrome [5]. This type of genetic testing can identify mutations in the RBBP8 gene, which is associated with Seckel syndrome 2.

Full Gene Sequencing

Full gene sequencing of PCNT as well as a Tier 2 Seckel syndrome panel is also available for diagnostic testing [7]. This comprehensive approach can provide a detailed understanding of the genetic basis of the disorder.

Broad Panel Testing

Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may be associated with Seckel syndrome 2, although specific details are not provided [8].

Other Diagnostic Tests

While not specifically mentioned as diagnostic tests for Seckel syndrome 2, other diagnostic tests such as ultrasound and imaging services (e.g., MRI scans, CT scans) may also be used to support the diagnosis of this condition [9-11].

References

• Borglum et al. (2001). Seckel syndrome: a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance.
• SCKL1 (210600) from OMIM
• DNA Labs India for conditions (1): Hereditary disease; Testing genes (1): RBBP8 (18q11.2)
• Novant Health Imaging Museum offers imaging services: MRI scans, CT scans, X-rays, ultrasounds & screening mammograms.
• Quest Diagnostics Incorporated and its affiliated companies provide HIPAA covered services.

Note: The information provided is based on the search results and may not be an exhaustive list of diagnostic tests for Seckel syndrome 2.

Treatment of Seckel Syndrome: Focus on Medical Problems

Seckel syndrome, a rare genetic disorder, requires focused treatment on any medical problems that may arise, especially blood disorders and structural deformities [3]. In case of associated hematological abnormalities such as anemia, pancytopenia, or acute myeloid leukemia, medical treatment should be provided [4].

Specific Treatment for Hematological Problems

Hematological problems like leukemia and anemia can be treated with appropriate medication and therapy [9]. This may involve the use of medications to manage symptoms and slow disease progression.

No Specific Treatment Available

Unfortunately, there is no specific treatment available for Seckel syndrome itself. Management for patients often involves growth and developmental intervention [8].

Citations: [3] - May 8, 2024 — Treatment of Seckel syndrome is focused on any medical problem that may arise, especially blood disorders and structural deformities. [4] - In case of associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia), medical treatment should be provided. [8] - by ADDM Kelana ·

The differential diagnosis for Seckel syndrome involves several conditions that share similar characteristics, such as growth restriction and microcephaly. Some of the key conditions to consider are:

• Osteodysplastic dwarfism with type II microcephaly: This condition is characterized by short stature, microcephaly, and mental retardation, which are all also present in Seckel syndrome [5][7].
• Achondrogenesis: A rare genetic disorder that affects bone growth, leading to short stature and other skeletal abnormalities [9].
• Apert Syndrome: A rare genetic disorder that affects the development of bones and cartilage, leading to short stature and other physical abnormalities [9].
• Constitutional Growth Delay: A condition characterized by slow growth and delayed puberty, which can be similar to Seckel syndrome in some cases [9].
• Cornelia De Lange Syndrome: A rare genetic disorder that affects physical and mental development, including short stature and microcephaly [9].

It's worth noting that the differential diagnosis for Seckel syndrome is not exhaustive, and other conditions may also need to be considered on a case-by-case basis.