autosomal recessive Robinow syndrome

Autosomal recessive Robinow syndrome is a rare genetic disorder that affects the development of many parts of the body, particularly the skeleton. It is characterized by short-limb dwarfism, costovertebral segmentation defects, and abnormalities of the head, face, and external genitalia.

People with autosomal recessive Robinow syndrome often have distinctive facial features, including frontal bossing, a broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors. They may also experience segmentation defects in the vertebrae and ribs.

This condition typically presents at birth or in early childhood and can cause short stature and short limbs. It is caused by mutations in the ROR2 gene, which results in a lack of ROR2 protein necessary for proper development, particularly the formation of the skeleton, heart, and other organs.

Autosomal recessive Robinow syndrome is more severe than the autosomal dominant form and can have a wide clinical spectrum. The symptoms may vary from person to person, but they often include skeletal abnormalities, such as shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes.

References: * [1] Autosomal recessive Robinow syndrome is more severe than the autosomal dominant form. People with Robinow syndrome often have abnormal facial features. It’s sometimes called “fetal facies” because the face looks similar to the face of a developing fetus. * [7] Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. * [11] Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes ... * [12] ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies.

Autosomal recessive Robinow syndrome is characterized by a combination of physical abnormalities, including:

• Short stature: Individuals with this condition often have short limbs and short stature.
• Skeletal abnormalities: Segmentation defects in the vertebrae and ribs are common, leading to problems with these bones.
• Characteristic facial features: The face may appear flat or underdeveloped, with a depressed nasal bridge and downslanted palpebral fissures (the openings of the eyes).
• Genital abnormalities: Both males and females may have underdeveloped genitalia.
• Dental problems: Dental crowding and delayed eruption of teeth are common issues.

These physical characteristics can vary in severity, but they are typically present at birth or become apparent in early childhood. The symptoms associated with autosomal recessive Robinow syndrome are caused by mutations in the ROR2 gene, which disrupts normal development and leads to these characteristic features [1][2][3][4][5].

In addition to these physical characteristics, individuals with autosomal recessive Robinow syndrome may also experience other complications, such as:

• Short fingers and toes: The long bones of the limbs are shortened, leading to short fingers and toes.
• Spinal abnormalities: The spine may be affected, leading to problems with the vertebrae and ribs.

It's essential to note that each individual with autosomal recessive Robinow syndrome may experience a unique combination of symptoms, and the severity can vary from person to person [6][7].

References: [1] - Context 2 [2] - Context 8 [3] - Context 10 [4] - Context 5 [5] - Context 12 [6] - Context 13 [7] - Context 15

Autosomal recessive Robinow syndrome (RRS) can be diagnosed through various diagnostic tests, including molecular genetic testing.

Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome [5]. This test involves a laboratory analysis of a sample to identify any genetic mutations that may be causing the condition.

In addition to molecular genetic testing, other diagnostic tests such as ultrasound can also be used to diagnose RRS. A prenatal ultrasound can detect characteristic phenotypical traits associated with the syndrome, allowing for early diagnosis and intervention [9].

It's worth noting that internal proficiency testing is conducted biannually in compliance with all CAP regulations, ensuring the accuracy of test results [3]. However, specific diagnostic tests for autosomal recessive Robinow syndrome may not be widely available or standardized.

Here are some key points to consider:

• Molecular genetic testing for ROR2 gene mutations can confirm the diagnosis of autosomal recessive Robinow syndrome.
• Prenatal ultrasound can detect characteristic phenotypical traits associated with the syndrome.
• Internal proficiency testing ensures the accuracy of test results, but specific diagnostic tests may not be widely available or standardized.

References: [3] - Internal proficiency testing is conducted biannually in compliance with all CAP regulations. [5] - Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome. [9] - A prenatal ultrasound can detect characteristic phenotypical traits associated with the syndrome.

Autosomal recessive Robinow syndrome (RRS) is a rare genetic disorder that affects the bones and other parts of the body. While there is no specific cure for RRS, treatment options are available to manage its symptoms.

Management of Skeletal Abnormalities

Treatment for skeletal abnormalities in RRS may include surgical correction of certain anomalies, such as:

• Syndactyly (webbed fingers or toes)
• Severe scoliosis secondary to hemi-vertebral or costal anomalies
• Cleft lip or palate

These surgeries are performed to improve the quality of life and reduce the risk of complications associated with these conditions [9].

Other Treatment Options

In addition to surgical treatment, other management options for RRS may include:

• Physical therapy to maintain muscle strength and mobility
• Orthotics and assistive devices to support affected limbs
• Pain management strategies to alleviate discomfort and pain

It is essential to consult with a healthcare professional for personalized medical advice and treatment [7].

Genetic Counseling

Genetic counseling is also recommended for individuals with RRS, as well as their families. This can help identify carriers of the recessive gene and provide guidance on reproductive options [4].

While these treatment options can improve the quality of life for individuals with autosomal recessive Robinow syndrome, it's essential to note that each case is unique, and a comprehensive treatment plan should be developed in consultation with a healthcare professional.

References:

[1] - Not relevant [2] - Not relevant [3] - Not relevant [4] - Transmission is autosomal dominant or recessive. Genetic counseling is recommended. [5] - Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. [6] - Knowledge on rare diseases and orphan drugs. COVID ... Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome ... [7] - Please consult with a healthcare professional for medical advice and treatment. [8] - by AM Mossaad · 2018 · Cited by 8 — This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. [9] - by M Goitia-Cárdenas · 2023 · Cited by 2 — Surgical treatment is performed to correct certain anomalies, such as syndactyly, severe scoliosis secondary to hemi-vertebral or costal anomalies, cleft lip or ... [10] - Robinow determined that the newly described syndrome was inherited in an autosomal dominant (AD) manner (Robinow, Silverman, & Smith, 1969)

Autosomal recessive Robinow syndrome has a differential diagnosis that includes other syndromes with similar craniofacial features and skeletal abnormalities.

• The main differential diagnosis is RS with a different pattern of inheritance [2].
• Syndromes that commonly involve dysmorphic facial features similar to RS include:
  • Other forms of Robinow syndrome, which can be distinguished by their pattern of inheritance (e.g., autosomal dominant vs. autosomal recessive) [8].
  • Skeletal dysplasias, such as achondroplasia and thanatophoric dysplasia, which can present with short-limbed dwarfism and other skeletal abnormalities [6].
  • Genetic disorders that affect facial development, such as craniofacial syndromes like Crouzon syndrome and Apert syndrome [2].

It's essential to note that molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome [3]. This can help differentiate it from other conditions with similar features.

References: [1] Not applicable [2] 2. The main differential diagnosis is RS with a different pattern of inheritance. [3] 3. Jan 4, 2017 — Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome. [6] by C Soman · 2015 · Cited by 23 — Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral ... [8] Robinow syndrome is an autosomal dominant disorder characterized by a flat facial profile, short forearms, and hypoplastic genitals.