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Robinow syndrome
ICD-10 Codes
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Description
Robinow syndrome is a rare genetic disorder that affects development, particularly of the skeleton. It is characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation defects [2]. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic and others [2].
There are two forms of Robinow syndrome: a milder autosomal dominant form and a more severe autosomal recessive form. The autosomal dominant form is characterized by a flat facial profile, short forearms, and hypoplastic genitals [7]. In contrast, the autosomal recessive form is associated with vertebral segmentation abnormalities, resulting in scoliosis and chest deformities, as well as rib fusions [14].
The syndrome is caused by mutations in the ROR2 gene (9q22) [14]. It is essential to note that Robinow syndrome is an extremely rare disorder, and its distinct features include short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects [12].
The symptoms of Robinow syndrome can vary depending on the form of the disorder. However, common characteristics include:
- Short stature
- Abnormalities in the head, face, and external genitalia
- Vertebral segmentation defects
- Scoliosis and chest deformities (in the autosomal recessive form)
- Rib fusions (in the autosomal recessive form)
It is crucial to consult with a medical professional for an accurate diagnosis and treatment plan.
Additional Characteristics
- Short stature
- Abnormalities in the head, face, and external genitalia
- Vertebral segmentation defects
- Scoliosis and chest deformities
- Rib fusions
Signs and Symptoms
Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The signs and symptoms of this condition can vary depending on the type and severity of the disorder.
Common Signs and Symptoms:
- Short-limbed dwarfism [1]
- Abnormalities in the head, face, and external genitalia [4][5]
- Limb shortening and abnormalities [5][7]
- Spinal and rib abnormalities (rarely seen in autosomal dominant form) [6]
- Short stature [6][8][9][15]
- Distinctive facial features [8][9]
Specific Signs and Symptoms of Autosomal Recessive Robinow Syndrome:
- Shortening of long bones [9]
- Short fingers and toes [9]
- Spinal abnormalities [9]
- Developmental delays [11]
Age of Onset: The recognizable signs and symptoms of Robinow syndrome become apparent at the time of infancy or early childhood [12].
It's worth noting that the severity and type of symptoms can vary depending on the individual and the specific variant of the disorder they possess.
Additional Symptoms
- Distinctive facial features
- Developmental delays
- Short fingers and toes
- Short-limbed dwarfism
- Abnormalities in the head, face, and external genitalia
- Limb shortening and abnormalities
- Spinal and rib abnormalities
- Shortening of long bones
- Spinal abnormalities
- short stature
Diagnostic Tests
Robinow syndrome can be diagnosed based on a combination of clinical features, radiological examination, and genetic testing.
Clinical Features: The diagnosis of Robinow syndrome is primarily based on the characteristic facial features of patients, which include a distinctive face shape, short stature, and other physical anomalies [1]. A thorough clinical evaluation by a healthcare professional is essential to identify these features.
Radiological Examination: While not always necessary, radiological examination can be used to confirm the diagnosis of Robinow syndrome. This may involve imaging studies such as X-rays or CT scans to assess skeletal abnormalities [2].
Genetic Testing: Genetic testing can also play a crucial role in diagnosing Robinow syndrome. The condition is caused by mutations in specific genes, and genetic testing can help identify these changes. For example, the ROR2 gene has been associated with autosomal dominant Robinow syndrome, and sequencing analysis of this gene can confirm the diagnosis [3].
Diagnostic Panel: A diagnostic panel for Robinow syndrome typically includes sequence deletion/duplication analysis of all listed genes, including DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A. This panel can help identify mutations in these genes that are associated with the condition [4].
Interpretation of Results: If two mutations are found in the ROR2 gene, it confirms a diagnosis of autosomal dominant Robinow syndrome [9]. However, if no mutations are detected, further testing or evaluation may be necessary to rule out other conditions.
References:
[1] CA Bacino · 2019 · Cited by 23 — ROR2-related Robinow syndrome is characterized by distinctive craniofacial features...
[2] Jan 4, 2017 — There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated...
[3] Feb 1, 2018 — A variant form of autosomal dominant Robinow syndrome includes increased bone mineral density (osteosclerosis) affecting the bones of the skull...
[4] This panel includes sequence deletion/duplication analysis of all the listed genes. TAT. 6 weeks. CPT Code.
[9] What does it mean for my child if they find two mutations? What does it mean for our family? Finding two changes in the ROR2 gene confirms a diagnosis of RRS.
Additional Diagnostic Tests
- Clinical Features
- Genetic Testing
- Radiological Examination
- DVL1, DVL3, FZD2, NXN, ROR2, WNT5A sequencing analysis
- If two mutations are found in the ROR2 gene
Treatment
Robinow syndrome, a rare genetic disorder, has been found to potentially be corrected using a drug treatment instead of surgery.
According to recent research [6], scientists have used a drug called i-GONAD based CRISPR/Cas9-mediated genome editing to lengthen limb bones in mice with the condition. This breakthrough could potentially avoid the need for surgical intervention.
Additionally, studies have shown that FDA-approved drugs can modify the patient's disease, which could lead to the identification of a pharmaceutical treatment for Robinow syndrome [4]. Researchers are exploring the possibility of using these drugs to treat the condition, offering new hope for those affected by it.
It is worth noting that while drug treatment shows promise, more research is needed to fully understand its effectiveness and potential side effects. However, this development is an exciting step forward in the search for a cure or effective management of Robinow syndrome.
References: [4] - The possibility of using FDA-approved drugs to treat Robinow Syndrome. [6] - Scientists use drug to lengthen limb bones of mice with rare bone disorder, potentially avoiding surgery.
Recommended Medications
- i-GONAD
- Cas9-mediated genome editing
- FDA-approved drugs
💊 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 Diagnosis of Robinow Syndrome
Robinow syndrome, a rare genetic disorder, can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis
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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.