Seckel syndrome 4

Seckel Syndrome 4: A Rare Genetic Disorder

Seckel syndrome 4, also known as SCKL1 (OMIM 210600), is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation. This condition results in individuals being born with low birth weight due to intrauterine growth restriction.

Key Features:

• Severe microcephaly, resulting in a small head size
• Mental retardation or intellectual disability
• Proportionate dwarfism, meaning the individual's body is proportionally smaller than average

Additional Information:

Seckel syndrome 4 is one of several forms of Seckel syndrome, a rare genetic disorder. The exact cause and prevalence of this condition are not well-documented.

Citations: 1. [6] - Severe pre- and postnatal growth retardation 2. [6] - Severe microcephaly with mental retardation 3. [7] - Postnatal proportional short stature, microcephaly with mental retardation

Seckel Syndrome Signs and Symptoms

Seckel syndrome, also known as primordial autosomal recessive dwarfism, is characterized by a range of physical and developmental abnormalities. The following are some of the common signs and symptoms associated with this condition:

• Proportionate Dwarfism: Seckel syndrome is marked by proportionate dwarfism, which means that the individual's body proportions are normal, but their overall size is significantly smaller than average.
• Microcephaly: Individuals with Seckel syndrome often have a small head (microcephaly) with a bird-headed like appearance.
• Mental Retardation: This condition is also associated with mental retardation, which can range from mild to severe.
• Intrauterine Growth Restriction: Seckel syndrome is characterized by intrauterine growth restriction, which means that the individual's growth was restricted during fetal development.

These physical and developmental abnormalities are often present at birth or become apparent shortly after. It's essential to note that each individual with Seckel syndrome may exhibit a unique combination of symptoms, and the severity of these symptoms can vary widely from person to person [1][2][3][4][5][6][7][8][9].

Diagnostic Tests for Seckel Syndrome

Seckel syndrome can be diagnosed through a combination of physical examination, genetic testing, and imaging studies.

• Physical Examination: A thorough physical examination is essential to identify the characteristic features of Seckel syndrome, such as slow growth before birth (intrauterine growth restriction), low birth weight, developmental delays, abnormality of head or neck, high forehead, underdeveloped nasal alae, abnormality of limbs, steep acetabular roof, and abnormality of the musculoskeletal system [1].
• Genetic Testing: Genetic testing is used to confirm the diagnosis of Seckel syndrome. This involves analyzing DNA samples from blood, saliva, or other tissues to identify mutations in specific genes associated with the condition [4][16].
• Imaging Studies: Imaging studies such as X-rays, MRI, and CT scans may be necessary to distinguish Seckel syndrome from other similar conditions, such as microcephalic osteodysplastic dwarfism type II [7][8].

Other Diagnostic Methods

In addition to the above tests, other methods can also be used for diagnostic purposes:

• Amniotic Fluid Analysis: Amniotic fluid analysis may be performed during pregnancy to detect abnormalities in fetal development [4].
• Bone Marrow Aspiration: Bone marrow aspiration may be done to rule out other conditions that affect bone marrow function [4].

References

[1] Context 1: Nov 17, 2021 — Seckel syndrome is rare genetic condition with slow growth before birth (intrauterine growth restriction) resulting in low birth weight. [2] Context 3: Abnormality of head or neck. High forehead; Underdeveloped nasal alae · Abnormality of limbs. Steep acetabular roof · Abnormality of the musculoskeletal system. [4] Context 6: Amniotic fluid (4) · Bone marrow (4) · Buccal swab (16) · Cell culture (21) · Chorionic villi (4) · Cord blood (19) · Dried blood spot (DBS) card ... [7] Context 7: The differential diagnosis with microcephalic osteodysplastic dwarfism type II can only be made with a complete radiographic survey in the first years of life. [8] Context 8: May 8, 2024 — Diagnosis of Seckel Syndrome​​ X-rays and other imaging tools (MRI, CT scan) may be needed to distinguish it from other similar conditions. There ...

Treatment Options for Seckel Syndrome

Seckel syndrome, a rare genetic disorder, requires supportive treatment to manage its associated hematological abnormalities.

• Medical management: In cases where anemia, pancytopenia, or acute myeloid leukemia are present, medical treatment is necessary to address these conditions. [4]
• Bone marrow transplantation: This therapeutic option has been shown to be effective in managing Seckel syndrome complicated by hematological abnormalities. [3]

It's essential to note that while these treatments can help manage the symptoms and complications of Seckel syndrome, there is currently no cure for the condition itself.

References:

• [4] Context result 4
• [3] Context result 3

The differential diagnosis for Seckel syndrome can be challenging, but it is often considered in conjunction with microcephalic osteodysplastic dwarfism type II.

• A complete radiographic survey in the first years of life is necessary to make a definitive diagnosis and rule out other conditions.
• The presence of severe sinus bradycardia, malignant hypertension, moyamoya-like vasculopathy of the brain, and blood abnormalities may also be indicative of Seckel syndrome.

According to [4], Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation.