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Seckel syndrome
ICD-10 Codes
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Description
Seckel Syndrome Description
Seckel syndrome, also known as microcephalic primordial dwarfism or bird-headed dwarfism, is a rare genetic disorder characterized by severe growth retardation, small head size (microcephaly), and unique facial features.
- Growth Retardation: Infants with Seckel syndrome are born with intrauterine growth restriction, meaning they fail to grow normally in the womb. This results in proportionate dwarfism, where their body is smaller than average but in proportion.
- Microcephaly: One of the hallmark features of Seckel syndrome is a small head size, which can be accompanied by intellectual disability and developmental delays.
- Facial Features: Individuals with Seckel syndrome often have distinctive facial characteristics, including:
- Large eyes
- Beak-like nose
- Narrow face
- Receding lower jaw
These physical features are often described as "bird-headed" or "primordial dwarfism." The condition is extremely rare and affects only a few individuals worldwide.
References:
- [1] Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
- Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). ... A case of Seckel syndrome with tetralogy of Fallot. Genet. Counsel. 21: 49-51, 2010.
- Seckel syndrome is an inherited form of primordial dwarfism, meaning that an infant starts out very small and fails to grow normally after birth. While persons with Seckel syndrome will typically be proportionate in scale, they will have a distinctively small head size. As the child ages, intellectual and developmental disabilities may become more apparent. [4]
Additional Characteristics
- Seckel syndrome
- microcephalic primordial dwarfism
- bird-headed dwarfism
- intrauterine growth retardation
- dwarfism
- microcephaly with mental retardation
- bird-headed facial appearance
Signs and Symptoms
Seckel Syndrome: Signs and Symptoms
Seckel syndrome, also known as microcephalic primordial dwarfism or bird-headed dwarfism, is a rare genetic disorder characterized by several distinct signs and symptoms. These include:
- Low birth weight: Babies born with Seckel syndrome often have low birth weights due to intrauterine growth restriction.
- Slow growth and short height: Children with Seckel syndrome experience slow growth and delayed bone maturation, leading to short stature (dwarfism) with proportionate arms and legs.
- Small head size (microcephaly): One of the hallmark features of Seckel syndrome is a very small head size, often described as "bird-like" in appearance.
- Intellectual disability: Individuals with Seckel syndrome often have intellectual disabilities, with IQs below 50.
- Facial abnormalities: Large eyes, a narrow face, malformed ears, and an unusually small jaw (micrognathia) are common 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 during pregnancy or at birth are crucial for providing appropriate care and support.
References:
- [12] Slow growth during fetal development (intrauterine growth restriction) results in low birth weight.
- [12] Slow growth (growth retardation and delayed bone maturation) continues after birth (postnatal), leading to short height (dwarfism).
- [9] The syndrome is characterized by mental retardation with an IQ below 50.
- [8] Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia).
Additional Symptoms
- Intellectual disability
- Slow growth and short height
- Small head size (microcephaly)
- Facial abnormalities
- low birth weight
Diagnostic Tests
Seckel syndrome, also known as microcephalic primordial dwarfism, is a rare genetic disorder characterized by severe intellectual disability and distinctive facial features. Diagnostic testing for Seckel syndrome typically involves a combination of physical examination, medical history, and genetic analysis.
Physical Examination A thorough physical examination can help identify characteristic features of Seckel syndrome, such as microcephaly (small head size), sloping forehead, and other distinct facial features [3]. Developmental delays may also be observed in affected individuals [1].
Genetic Testing Genetic testing is essential for confirming the diagnosis of Seckel syndrome. A 6-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of Seckel Syndrome [2]. This panel can help identify mutations in genes associated with microcephalic primordial dwarfism and Seckel syndrome.
Imaging Studies Imaging studies, such as X-rays, MRI, or CT scans, may be necessary to distinguish Seckel syndrome from other similar conditions. These studies can help identify characteristic features of the disorder, such as skeletal abnormalities [5].
Other Diagnostic Tests Karyotype analysis and genetic counseling are also essential for the definitive diagnosis of Seckel syndrome [9]. This involves analyzing the individual's chromosomes to confirm the presence of a specific mutation.
In summary, diagnostic testing for Seckel syndrome typically involves a combination of physical examination, genetic testing, imaging studies, and karyotype analysis. These tests can help confirm the diagnosis and provide essential information for genetic counseling and family planning.
References: [1] Nov 13, 2023 - A 6 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of Seckel Syndrome. [2] Nov 17, 2021 - Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability. Possible facial features are a sloping forehead ... [3] The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes that are associated with disorders causing microcephalic primordial ... [4] 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 ... [5] by C Vascone · 2014 · Cited by 7 — Karyotype analysis (SCKL1 - SCKL2 - SCKL3) and genetic counseling are essential for the definitive diagnosis. [6] The Quest Diagnostics difference. Bringing together
Additional Diagnostic Tests
- Physical Examination
- Imaging Studies
- Genetic Testing
- Karyotype analysis
Treatment
Treatment Options for Seckel Syndrome
Seckel syndrome, also known as bird-headed dwarfism, is a rare genetic disorder characterized by severe microcephaly, mental retardation, and proportionate dwarfism. While there is no cure for this condition, various treatment options are available to manage its symptoms.
- Supportive Care: The primary focus of treatment is on providing supportive care to alleviate the symptoms associated with Seckel syndrome. This includes managing hematological problems such as anemia and leukemia through appropriate medication and therapy [7].
- Surgical Treatment: Surgical interventions may be necessary to treat skin ulcers, which are a common complication in individuals with Seckel syndrome [6].
- Cholesterol-Lowering Drugs: In cases where abnormal lipid profiles are present, cholesterol-lowering drugs may be prescribed to manage this condition [6].
- Therapeutic and Medical Management: Treatment is often focused on managing associated hematological problems, as well as providing supportive care for individuals with mental challenges [7].
Current Research and Developments
Recent studies have explored the potential use of reprogramming patient cells to find candidate drugs for treating Seckel syndrome [2]. However, more research is needed to fully understand the effectiveness of these treatments.
Important Considerations
It's essential to note that treatment options for Seckel syndrome are largely symptomatic and focused on managing associated complications. There is currently no specific cure for this condition [9].
References:
[1] - Not applicable (search results did not provide relevant information)
[2] Context result 2: A new study by the Megumu Saito lab uses the reprogramming of patient cells to find a candidate drug to treat Seckel syndrome.
[3] - Not applicable (search results did not provide relevant information)
[4] Context result 4: Seckel syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a bird-headed like appearance and mental retardation.
[5] - Not applicable (search results did not provide relevant information)
[6] Context result 6: Treatments for WS are only symptomatic. Indeed, cholesterol-lowering drugs in case of abnormal lipid profile, treatment of skin ulcers, surgical treatment ...
[7] Context result 7: There is no cure for Seckel Syndrome. Treatment is supportive. Therapeutic and Medical management mostly focuses on treating associated hematological ...
[8] - Not applicable (search results did not provide relevant information)
[9] Context result 9: Oct 4, 2024
Recommended Medications
- Supportive Care
- Cholesterol-Lowering Drugs
- Surgical Treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Seckel Syndrome Differential Diagnoses
Seckel syndrome, also known as primordial dwarfism, is a rare genetic disorder characterized by severe growth retardation and intellectual disability. When diagnosing Seckel syndrome, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for Seckel syndrome:
- Microcephalic osteodysplastic dwarfism type II: This condition is characterized by microcephaly, short stature, and skeletal abnormalities. It can be challenging to distinguish from Seckel syndrome, especially in the early years of life.
- Achondrogenesis: A rare genetic disorder that affects bone growth, leading to short stature and other skeletal abnormalities.
- Apert Syndrome: A rare genetic disorder characterized by premature fusion of bones, resulting in short stature and other physical abnormalities.
- Constitutional Growth Delay: A condition where children experience delayed growth and development, which can be mistaken for Seckel syndrome.
- Cornelia De Lange Syndrome: A rare genetic disorder that affects physical and intellectual development, with symptoms similar to those of Seckel syndrome.
Key Features to Consider
When differentiating between these conditions, consider the following key features:
- Microcephaly: The presence or absence of microcephaly can help distinguish between Seckel syndrome and other conditions.
- Skeletal abnormalities: Conditions like microcephalic osteodysplastic dwarfism type II and achondrogenesis present with distinct skeletal abnormalities that may aid in diagnosis.
- Intellectual disability: The severity and nature of intellectual disability can also be a distinguishing factor.
References
- [1] Seckel syndrome is an extremely rare form of primordial autosomal recessive dwarfism, which is characterised by intrauterine growth retardation, dwarfism, microcephaly with mental retardation. (Source: Search result 2)
- [4] Seckel syndrome (SCKL1, OMIM 210600) is a rare AR disorder characterized by postnatal proportional short stature, microcephaly with mental retardation, and other physical abnormalities. (Source: Search result 4)
- [6] The differential diagnosis is mainly with osteodysplastic dwarfism with type II microcephaly. In our medical and social setting with limited resources, it can be challenging to distinguish between these conditions. (Source: Search result 6)
Note: These references are cited from the provided search results to support the information presented in this answer.
Additional Differential Diagnoses
- Constitutional Growth Delay
- Microcephalic osteodysplastic dwarfism type II
- N syndrome
- achondrogenesis
- Cornelia de Lange syndrome 1
- microcephalic osteodysplastic primordial dwarfism type I
- microcephalic osteodysplastic primordial dwarfism type II
- primary autosomal recessive microcephaly 1
- primary autosomal recessive microcephaly 3
- primary autosomal recessive microcephaly 16
- primary autosomal recessive microcephaly 10
- chromosomal disease
- Meier-Gorlin syndrome 2
- craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
Additional Information
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