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Seckel syndrome 7

Description

Seckel syndrome 7, also known as SCKL7, is a rare autosomal recessive disorder characterized by proportionate dwarfism, low birth weight, growth retardation, severe microcephaly with intellectual disability, and distinctive facial features.

Key Features:

  • Proportionate dwarfism
  • Low birth weight
  • Growth retardation
  • Severe microcephaly (small head size)
  • Intellectual disability
  • Distinctive facial features

Causes: Seckel syndrome 7 is caused by a compound heterozygous mutation in the NIN gene [7][9]. This genetic mutation leads to the development of this rare disorder.

References:

[1] Severe pre- and postnatal growth retardation, severe microcephaly, severe... (search result 5) [2] Low birth weight due to intrauterine growth restriction (search result 2) [3] Proportionate dwarfism, low birth weight, growth retardation, severe microcephaly with intellectual disability (search result 6) [7] Compound heterozygous mutation in the NIN gene causes Seckel syndrome-7 (SCKL7) (search result 7 and 9)

Additional Characteristics

  • Intellectual disability
  • Distinctive facial features
  • Growth retardation
  • Low birth weight
  • Severe microcephaly (small head size)
  • Proportionate dwarfism

Signs and Symptoms

Seckel Syndrome 7 Signs and Symptoms

Seckel syndrome 7, also known as SCKL7, is a rare genetic disorder characterized by severe microcephaly (small head size) and significantly reduced height. Some patients with this condition may exhibit developmental delays.

  • Microcephaly: Severe microcephaly is a hallmark feature of Seckel syndrome 7, resulting in a small head size.
  • Growth Retardation: Individuals with SCKL7 often experience growth retardation, leading to significantly reduced height.
  • Developmental Delays: Some patients may exhibit developmental delays, which can impact their cognitive and motor skills development.

Additionally, some individuals with Seckel syndrome 7 may display unique facial features, such as:

  • Large Eyes: Abnormally large eyes have been reported in some cases of SCKL7.
  • Narrow Face: A narrow face shape is another possible feature associated with this condition.
  • Malformed Ears: Malformed ears or an unusually small jaw (micrognathia) may also be present.

It's essential to note that Seckel syndrome 7 can have a significant impact on an individual's quality of life, and early diagnosis and intervention are crucial for managing the symptoms and improving outcomes. [11][12][13][14]

Additional Symptoms

  • Microcephaly
  • Developmental Delays
  • Growth Retardation
  • Large Eyes
  • Narrow Face
  • Malformed Ears

Diagnostic Tests

Diagnostic Tests for Seckel Syndrome

Seckel syndrome, also known as primordial dwarfism, can be challenging to diagnose due to its rarity and the fact that it is often misdiagnosed with other conditions. However, there are several diagnostic tests that can help confirm the diagnosis.

  • Genetic Testing: Genetic testing can be done to confirm the diagnosis of Seckel syndrome. This involves analyzing the genes associated with the condition, such as those involved in microcephalic primordial dwarfism and Seckel syndrome (e.g., [7]). The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes that are associated with disorders causing microcephalic primordial dwarfism and Seckel syndrome ([7]).
  • Physical Examination: Diagnosis of Seckel syndrome is based almost exclusively on physical symptoms. A healthcare provider will examine the individual for characteristic features such as growth retardation, very small head (microcephaly), intellectual disability, and unique facial features

Additional Diagnostic Tests

  • Physical Examination
  • Genetic Testing

Treatment

Symptomatic Drug Treatments for Seckel Syndrome

According to available information, treatments for Seckel syndrome are only symptomatic, meaning they focus on alleviating the symptoms rather than curing the condition.

  • Cholesterol-lowering drugs: In cases where there is an abnormal lipid profile, cholesterol-lowering medications may be prescribed.
  • Treatment of skin ulcers: Skin ulcers that occur in individuals with Seckel syndrome can be treated with appropriate medication and therapy.
  • Surgical treatment: Surgical interventions may be necessary to address specific health issues related to the condition.

It's essential to note that these treatments are not a cure for Seckel syndrome, but rather a way to manage its symptoms. [7][8]

Recommended Medications

  • Surgical treatment
  • Cholesterol-lowering drugs
  • Treatment of skin ulcers

💊 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

Differential Diagnoses for Seckel Syndrome

Seckel syndrome, a rare genetic disorder, can be challenging to diagnose due to its unique characteristics. However, several conditions share similar symptoms and must be considered in the differential diagnosis.

  • Achondrogenesis: A rare genetic disorder characterized by short-limbed dwarfism, underdeveloped bones, and often accompanied by respiratory problems.
  • Apert Syndrome: A rare genetic disorder that affects bone development, leading to premature fusion of skull bones, facial abnormalities, and limb malformations.
  • Constitutional Growth Delay: A condition where growth is slower than average, but not necessarily due to a specific medical cause. It can be associated with short stature, delayed puberty, and intellectual disability.
  • Cornelia De Lange Syndrome: A rare genetic disorder characterized by facial abnormalities, intellectual disability, and often accompanied by physical disabilities such as joint problems or vision impairment.
  • Cystinosis: A rare inherited disease that causes cystine to accumulate in various organs, leading to symptoms like kidney failure, blindness, and muscle weakness.
  • DiGeorge Syndrome: A genetic disorder affecting the development of the thymus gland, which can lead to weakened immune systems, heart defects, and cleft palate.

These conditions share some similarities with Seckel syndrome, making them potential differential diagnoses. Accurate diagnosis requires a comprehensive medical evaluation and consultation with specialists.

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.