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autosomal dominant Robinow syndrome 1
ICD-10 Codes
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Description
Autosomal dominant Robinow syndrome (ADRS) is a rare genetic disorder that affects the development of bones and other parts of the body.
- Short stature: Individuals with ADRS typically have short stature, which can range from mild to severe [5].
- Limb shortening: The condition is characterized by mesomelic limb shortening, meaning that the arms and legs are disproportionately short compared to the trunk [6].
- Dysmorphic features: People with ADRS often have dysmorphic features, including a "fetal face" appearance, which can include a flat midface, a small nose, and other unusual facial characteristics [6].
- Other symptoms: The condition can also cause abnormalities in the head, face, and external genitalia, as well as other problems such as increased bone mineral density (osteosclerosis) affecting the bones of the skull [1].
It's worth noting that ADRS is a rare disorder, and its symptoms can vary widely from person to person.
Additional Characteristics
- Short stature
- Other symptoms
- Dysmorphic features
- Limb shortening
Signs and Symptoms
Autosomal dominant Robinow syndrome is characterized by several distinct signs and symptoms, which can vary in severity from person to person.
- Skeletal findings: Individuals with autosomal dominant Robinow syndrome often have short stature, mesomelic limb shortening (primarily affecting the upper limbs), and brachydactyly (short fingers).
- Genital abnormalities: Males may experience micropenis, webbed penis, hypoplastic scrotum, and cryptorchidism, while females may have hypoplastic clitoris and labia majora.
- Dysmorphic facial features: People with autosomal dominant Robinow syndrome often have widely spaced and prominent eyes, a broad forehead, a short nose with an upturned tip, and other distinctive facial characteristics.
These signs and symptoms can be similar to those of the autosomal recessive form, but tend to be milder in severity. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form, and short stature is less pronounced. A variant form of autosomal dominant Robinow syndrome includes increased bone density.
It's worth noting that the diagnosis of autosomal dominant Robinow syndrome is based on clinical findings, and a doctor (such as a medical geneticist) will look for these signs and symptoms to determine if that is the correct diagnosis [11][12].
References: [1] - The severity of short stature can vary from person to person. [3] - Mutations in the WNT5A gene or DVL1 gene are responsible for autosomal dominant Robinow syndrome. [4] - Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form, and short stature is less pronounced. [8] - A variant type includes osteosclerosis and other skeletal abnormalities. [11] - Autosomal dominant Robinow syndrome is characterized by skeletal findings, genital abnormalities, and dysmorphic facial features. [12] - The diagnosis of autosomal dominant Robinow syndrome is based on clinical findings.
Additional Symptoms
- Dysmorphic facial features
- Brachydactyly (short fingers)
- Hypoplastic clitoris and labia majora (in females)
- Widely spaced and prominent eyes
- Short nose with an upturned tip
- Mesomelic limb shortening (primarily affecting the upper limbs)
- Micropenis (in males)
- Webbed penis (in males)
- Hypoplastic scrotum (in males)
- Cryptorchidism (in males)
- Broad forehead
- short stature
Diagnostic Tests
Autosomal dominant Robinow syndrome can be diagnosed through various tests, including:
- Clinical evaluation: Diagnosis is based on the characteristic fetal face appearance of patients and clinical picture [3].
- Molecular genetic testing: This involves a laboratory test on a sample to confirm the diagnosis by identifying mutations in the ROR2 gene [7].
- Genetic analysis: Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis [8].
Additionally, comprehensive genomic testing such as exome sequencing and genome sequencing may be considered to provide more information about the genetic cause of the condition [1].
It's worth noting that internal proficiency testing is conducted biannually in compliance with all CAP regulations, and inter-laboratory proficiency testing is performed for some tests [4].
Additional Diagnostic Tests
- Clinical evaluation
- Molecular genetic testing
- Exome sequencing
- Genetic analysis
- Genome sequencing
Treatment
Based on the search results, it appears that there are some treatment options available for autosomal dominant Robinow syndrome.
According to search result [7], a new drug-based approach has been developed to correct the symptoms of autosomal dominant Robinow Syndrome. This approach uses i-GONAD based CRISPR/Cas9 technology, which is a gene editing tool that can modify genes in human cells.
Additionally, search result [8] mentions that growth hormone treatment was initiated at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing the patient's height from less than 1st percentile to above the 25th percentile.
It is also worth noting that search result [6] discusses management and treatment options for manifestations of Robinow syndrome, including corrective surgeries as needed for cryptorchidism, abnormal penile insertion/penoscrotal position, etc.
However, it's essential to note that these are just a few examples, and more research is likely needed to fully understand the drug treatment options available for autosomal dominant Robinow syndrome.
- A new drug-based approach using i-GONAD based CRISPR/Cas9 technology has been developed to correct symptoms of autosomal dominant Robinow Syndrome [7].
- Growth hormone treatment was initiated at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing the patient's height from less than 1st percentile to above the 25th percentile [8].
- Management and treatment options for manifestations of Robinow syndrome include corrective surgeries as needed [6].
Recommended Medications
- Cas9 technology has been developed to correct symptoms of autosomal dominant Robinow Syndrome
- week at 4 years of age with favorable results, increasing the patient's height from less than 1st percentile to above the 25th percentile
- Management and treatment options for manifestations of Robinow syndrome include corrective surgeries as needed
💊 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 can be challenging to diagnose, and it may be confused with other conditions that present similar symptoms. Here are some differential diagnoses to consider:
- Short-limbed dwarfism: This condition is characterized by short stature and limb shortening, which can be similar to autosomal dominant Robinow syndrome.
- [5] reported shortened long bones in a prenatal diagnosis of Robinow syndrome, which can be confused with short-limbed dwarfism.
- Skeletal dysplasias: These are a group of conditions that affect the development of bones and cartilage. Some skeletal dysplasias, such as achondroplasia or thanatophoric dysplasia, can present with similar symptoms to autosomal dominant Robinow syndrome.
- [9] describes Robinow syndrome as a rare skeletal dysplasia syndrome, which can be confused with other skeletal dysplasias.
- Other genetic disorders: Autosomal dominant Robinow syndrome may also be confused with other genetic disorders that affect the development of bones and cartilage. For example:
- [8] mentions that both autosomal dominant and autosomal recessive forms of Robinow syndrome exist, which can be confused with other genetic disorders.
It's essential to note that a definitive diagnosis of autosomal dominant Robinow syndrome requires a comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, orthopedic surgeons, and radiologists.
Additional Differential Diagnoses
- Other genetic disorders
- Short-limbed dwarfism
- Skeletal dysplasias (such as achondroplasia or thanatophoric dysplasia)
Additional Information
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- A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
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