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autosomal recessive Robinow syndrome 2

Description

Autosomal recessive Robinow syndrome-2 (RRS2) is a rare genetic disorder that affects the skeletal system. It is characterized by postnatal mesomelic short stature, which means that the arms and legs are shorter than usual compared to the trunk of the body.

Some common features of RRS2 include:

  • Shortening of the long bones in the arms and legs
  • Relative macrocephaly, meaning a larger-than-usual head size
  • Dysmorphic facial features, such as an unusual shape or appearance of the face
  • Skeletal abnormalities, including short fingers and toes

RRS2 is considered to be a more severe form of Robinow syndrome compared to other types. It is caused by mutations in specific genes that affect bone growth and development.

According to search results [5], RRS2 is characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features. This information suggests that individuals with RRS2 may experience significant physical differences compared to the general population.

Additionally, search result [8] states that RRS2 is a skeletal dysplasia characterized by postnatal mesomelic short stature, relative macrocephaly, and dysmorphic facial features. This further emphasizes the unique characteristics of this condition.

Overall, autosomal recessive Robinow syndrome-2 (RRS2) is a rare genetic disorder that affects bone growth and development, leading to distinctive physical features and skeletal abnormalities.

Additional Characteristics

  • skeletal abnormalities
  • dysmorphic facial features
  • postnatal mesomelic short stature
  • relative macrocephaly
  • shortening of the long bones in the arms and legs
  • short fingers and toes

Signs and Symptoms

Autosomal recessive Robinow syndrome 2 (RRS2) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the common features associated with RRS2 include:

  • Postnatal mesomelic short stature: This refers to a condition where an individual's arms and legs are proportionally shorter than average, leading to a characteristic "short-limbed" appearance [6].
  • Shortening of long bones: The long bones in the arms and legs may be shortened, which can lead to a range of mobility issues and other complications [2][7].
  • Spinal abnormalities: Individuals with RRS2 may experience vertebral segmentation abnormalities, resulting in scoliosis (a curvature of the spine) and chest deformities [4].
  • Rib fusions: In some cases, rib fusions may occur, which can lead to breathing difficulties and other respiratory problems [4].

It's worth noting that each individual with RRS2 may experience a unique combination of these symptoms, and the severity of the condition can vary widely from person to person.

Additional Symptoms

Diagnostic Tests

Autosomal recessive Robinow syndrome can be diagnosed through various diagnostic tests, including:

  • Molecular genetic testing for mutations in the ROR2 gene [4]
  • Genetic analysis to provide a molecular diagnosis of this disorder [6]
  • Deletion/duplication analysis for mutations in the ROR2 gene [2]

These tests are typically recommended for individuals with a personal and/or family history of autosomal recessive Robinow syndrome, as well as those who exhibit characteristic skeletal abnormalities such as shortening of the long bones in the arms and legs, particularly the upper limbs [7].

It's worth noting that prenatal diagnosis is also possible using ultrasound by focusing on the characteristic phenotypical trades [9]. However, the availability of these tests may vary depending on the location and the healthcare provider.

References: [2] - Clinical tests (2 available). Molecular Genetics Tests. Deletion/duplication analysis (2) [4] - Jan 4, 2017 โ€” Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome. [6] - Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ... [7] - Autosomal recessive RS (DRS) is the most common form, but there is currently no testing available for DRS. Individuals with mutations in ROR2 have autosomal ... [9] - by BF Jeppesen ยท 2017 ยท Cited by 12 โ€” This case report finds that the syndrome can be diagnosed prenatally using ultrasound by focusing on the characteristic phenotypical trades.

Additional Diagnostic Tests

  • Prenatal ultrasound
  • Molecular genetic testing for mutations in the ROR2 gene
  • Genetic analysis to provide a molecular diagnosis of this disorder
  • duplication analysis for mutations in the ROR2 gene

Treatment

Based on the provided context, it appears that there are limited resources available for drug treatment of autosomal recessive Robinow syndrome.

However, according to search result [15], "Cardiac anomalies require surgical correction and, in some cases, long-term pharmacological treatment." This suggests that while surgery may be necessary to correct cardiac anomalies associated with the condition, certain medications may also be used as part of a long-term treatment plan.

It's worth noting that the context does not provide further information on specific drugs or treatment protocols for autosomal recessive Robinow syndrome. Therefore, it is essential to consult with a healthcare professional for personalized medical advice and treatment.

In summary:

  • Cardiac anomalies associated with autosomal recessive Robinow syndrome may require surgical correction.
  • Long-term pharmacological treatment may also be necessary in some cases.
  • Specific drug treatments are not specified in the provided context.

Recommended Medications

  • surgical correction
  • pharmacological treatment

๐Ÿ’Š 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

Autosomal recessive Robinow syndrome 2 (RRS2) is a rare genetic disorder that can be challenging to diagnose due to its similarities with other conditions. A differential diagnosis for RRS2 involves considering several other disorders that share similar symptoms and characteristics.

Some of the key conditions that may be considered in a differential diagnosis for autosomal recessive Robinow syndrome 2 include:

  • Autosomal dominant Robinow syndrome: This is another form of Robinow syndrome, but it is caused by mutations in a different gene (ROR2) and has distinct clinical features.
  • Short-limbed dwarfism: This condition is characterized by short stature and limb abnormalities, which can be similar to those seen in RRS2.
  • Skeletal dysplasias: These are a group of disorders that affect the development of bones and cartilage, leading to skeletal abnormalities. Some forms of skeletal dysplasia may present with symptoms similar to RRS2.
  • Other rare genetic disorders: There are several other rare genetic conditions that can cause short-limbed dwarfism or skeletal abnormalities, which may be considered in a differential diagnosis for RRS2.

To confirm the diagnosis of autosomal recessive Robinow syndrome 2, molecular genetic testing is available to identify mutations in the NXN gene. This test can help distinguish RRS2 from other conditions with similar symptoms.

It's worth noting that the diagnosis and management

Additional Differential Diagnoses

Additional Information

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autosomal recessive Robinow syndrome 2
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A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.
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