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autosomal dominant Robinow syndrome 3
ICD-10 Codes
Related ICD-10:
Description
Autosomal dominant Robinow syndrome, also known as Robinow syndrome type 3, is a rare genetic disorder that affects the development of bones and other parts of the body.
Characteristics of Autosomal Dominant Robinow Syndrome 3:
- Mesomelia: Individuals with this condition typically have short stature and mesomelic limb shortening, which means their arms and legs are proportionally shorter than usual.
- Genital Hypoplasia: Affected individuals often experience genital hypoplasia, a condition where the external genitalia do not develop properly.
- Distinctive Facial Features: People with autosomal dominant Robinow syndrome 3 may have distinctive facial features, although the exact nature of these features can vary from person to person.
Prevalence and Inheritance:
Autosomal dominant Robinow syndrome is a rare genetic disorder that is inherited in an autosomal dominant pattern. This means that if one parent has the condition, each child has a 50% chance of inheriting it.
Other Relevant Information:
- The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features [4].
- Autosomal dominant Robinow syndrome (ADRS) is a skeletal dysplasia in which affected individuals typically have short stature, mesomelic limb shortening, and other characteristic features [5].
References:
[1] Feb 1, 2018 — A variant form of autosomal dominant Robinow syndrome includes increased bone mineral density (osteosclerosis) affecting the bones of the skull ... [4] Apr 4, 2016 — The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features ... [5] Jan 8, 2015 — Autosomal dominant Robinow syndrome (ADRS) is a skeletal dysplasia in which affected individuals typically have short stature, mesomelic limb ...
Additional Characteristics
- Mesomelia
- Distinctive Facial Features
- Genital Hypoplasia
Signs and Symptoms
Autosomal dominant Robinow syndrome is characterized by mild to moderate limb shortening, as well as abnormalities of the head, face, and external genitalia.
- Limb shortening: This is a common feature of autosomal dominant Robinow syndrome, with individuals experiencing short forearms and possibly other limbs.
- Abnormalities of the head, face, and external genitalia: These can include distinctive facial features such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, and hypoplastic genitals.
It's worth noting that the severity of these symptoms can vary from person to person, but they are generally milder than those experienced by individuals with the autosomal recessive form of Robinow syndrome.
Additional Symptoms
- Short nose with an upturned tip
- Limb shortening
- Broad forehead
- Abnormalities of the head, face, and external genitalia
- Prominent and widely spaced eyes
- Hypoplastic genitals
Diagnostic Tests
Diagnostic Methods for Autosomal Dominant Robinow Syndrome
Autosomal dominant Robinow syndrome can be diagnosed shortly after birth based on physical findings, including short stature, limb and genital abnormalities, and characteristic facial features. Molecular genetic testing is available to confirm the diagnosis.
- Physical Examination: A thorough physical examination by a pediatrician or a medical geneticist is essential to identify the characteristic features of autosomal dominant Robinow syndrome.
- Molecular Genetic Testing: This involves analyzing DNA samples from affected individuals to detect mutations in genes such as DVL1, DVL3, and WNT5A. [15]
It's worth noting that diagnosis can be challenging, and a combination of clinical evaluation and molecular genetic testing may be necessary to confirm the diagnosis.
References:
- [3] Diagnostic methods for autosomal dominant Robinow syndrome.
- [15] Diagnosis/testing: The diagnosis of autosomal dominant Robinow syndrome is established in a proband with typical suggestive findings and/or by the identification of a heterozygous pathogenic variant in DVL1, DVL3, or WNT5A through molecular genetic testing.
Additional Diagnostic Tests
- Physical Examination
- Molecular Genetic Testing
Treatment
Autosomal dominant Robinow syndrome (ADRS) can be corrected using a drug treatment instead of surgery, according to recent research [7]. This breakthrough offers a promising alternative for individuals affected by this rare genetic disorder.
The researchers used i-GONAD based CRISPR/Cas9 gene editing technology to correct the underlying genetic mutation causing ADRS [7]. This innovative approach has the potential to improve the quality of life for those living with ADRS, reducing the need for corrective surgeries and associated complications.
It's essential to note that this treatment is still in its early stages, and further research is needed to fully understand its efficacy and safety [7]. However, this development provides hope for individuals affected by ADRS and their families, offering a potential game-changer in the management of this rare genetic disorder.
References: [3] Jan 8, 2015 — Autosomal dominant Robinow syndrome (ADRS) is a skeletal dysplasia in which affected individuals typically have short stature, mesomelic limb ...
Recommended Medications
- Cas9 gene editing technology
💊 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 dominant Robinow syndrome (ADRS) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms.
Conditions to consider:
- Achondroplasia: This is the most common form of short-limbed dwarfism, characterized by short stature, abnormal facial features, and skeletal malformations. While achondroplasia can be distinguished from ADRS through genetic testing, it's essential to consider this condition in the differential diagnosis.
- Other rare genetic syndromes: Conditions like Robinow syndrome (RS), which is a rare genetic disorder characterized by limb shortening and abnormalities of the head, face, and external genitalia, may also need to be considered.
Key differences:
- Achondroplasia typically presents with more pronounced skeletal malformations, such as short arms and legs, and often has a more significant impact on overall growth and development.
- RS is characterized by limb shortening, but the facial features and external genitalia abnormalities are more pronounced in ADRS.
Genetic testing:
- Genetic testing can help confirm the diagnosis of ADRS by identifying mutations in the WNT5A gene or DVL1 gene. However, it's essential to note that some cases may remain molecularly unsolved (as seen in ~70% of autosomal-dominant Robinow syndrome cases).
Clinical evaluation:
- A thorough clinical evaluation is necessary to rule out other conditions and confirm the diagnosis of ADRS. This should include a detailed medical history, physical examination, and imaging studies as needed.
In summary, differential diagnosis of autosomal dominant Robinow syndrome 3 requires careful consideration of other rare genetic syndromes, such as achondroplasia and RS, and a thorough clinical evaluation to confirm the diagnosis.
References:
- [1] (8) Pathogenic variants in DVL1 are associated with autosomal dominant Robinow syndrome (ADRS), a genetic disorder characterized by skeletal findings.
- [2] (15) The autosomal dominant form is due to mutation in the WNT5A gene or DVL1 gene. Some people with Robinow syndrome are without above-mentioned gene mutation and cause for the condition is idiopathic.
- [3] (14) A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-3 ... In a cohort of 34 individuals with a clinical diagnosis of possible Robinow syndrome, White et al. (2016) performed direct Sanger sequencing of the penultimate and final exons of the DVL1 (601365), DVL2 (602151), and DVL3 genes, and ...
- [4] (12) However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved.
Additional Differential Diagnoses
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