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autosomal dominant Robinow syndrome 2
ICD-10 Codes
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Description
Autosomal dominant Robinow syndrome 2, also known as DRS2 or DVL1 autosomal dominant Robinow syndrome, is a rare skeletal dysplasia characterized by distinctive facial features and mesomelic dwarfism.
Key Features:
- Distinctive facial features, often referred to as "fetal facies" [8]
- Mesomelic limb shortening, predominantly affecting the upper limbs [5]
- Short stature [1], [5]
- Hypertelorism (increased distance between the eyes) and a short nose [3]
Other Characteristics:
- Flat facial profile [9]
- Short forearms [9]
- Hypoplastic genitals [9]
It's essential to note that autosomal dominant Robinow syndrome 2 is a rare condition, and its symptoms may vary in severity from person to person. The exact cause of the disease is attributed to mutations in the DVL1 gene [7].
References: [1] - Context result 1 [3] - Context result 3 [5] - Context result 5 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9
Additional Characteristics
- Short stature
- Hypoplastic genitals
- Distinctive facial features, often referred to as 'fetal facies'
- Mesomelic limb shortening, predominantly affecting the upper limbs
- Hypertelorism (increased distance between the eyes) and a short nose
- Flat facial profile
- Short forearms
Signs and Symptoms
Autosomal dominant Robinow syndrome is characterized by a range of signs and symptoms, which can vary in severity from person to person. Some of the common features include:
- Skeletal abnormalities: Short stature, mesomelic limb shortening (predominantly affecting the upper limbs), and brachydactyly (short fingers) are characteristic of autosomal dominant Robinow syndrome.
- Genital abnormalities: In males, these can include micropenis/webbed penis, hypoplastic scrotum, and cryptorchidism. In females, they may involve hypoplastic clitoris and labia majora.
- Dysmorphic facial features: Widely spaced and prominent eyes, frontal bossing (a condition where the forehead is more prominent than usual), and a short nose with an upturned tip are common facial characteristics.
- Other features: Some individuals may also experience increased bone density, osteosclerosis (hardening of the bones), or other skeletal abnormalities.
It's worth noting that the severity of these symptoms can vary significantly between affected individuals. In some cases, the symptoms may be mild and not as pronounced as in others. [1][2][3][4]
Additional Symptoms
- Dysmorphic facial features
- Brachydactyly (short fingers)
- Mesomelic limb shortening (predominantly affecting the upper limbs)
- webbed penis (in males)
- Hypoplastic scrotum and cryptorchidism (in males)
- Hypoplastic clitoris and labia majora (in females)
- Widely spaced and prominent eyes
- Frontal bossing (forehead more prominent than usual)
- Short nose with an upturned tip
- Increased bone density
- Osteosclerosis (hardening of the bones)
- short stature
Diagnostic Tests
Autosomal dominant Robinow syndrome 2 (DRS2) can be diagnosed through various diagnostic tests, including:
- Molecular genetic testing: This test involves analyzing the DVL1 gene to identify any mutations that may be causing the condition. The diagnosis is established in a proband with typical suggestive findings and/or by the identification of a heterozygous pathogenic variant in DVL1 through molecular genetic testing [15].
- Exome sequencing and genome sequencing: These comprehensive genomic tests may also be considered for diagnosing DRS2, as they can provide a detailed analysis of the entire exome or genome [2].
It's worth noting that the diagnosis of autosomal dominant Robinow syndrome 2 is typically established through the identification of a pathogenic variant in the DVL1 gene. This can be done through various molecular genetic testing methods.
Additionally, the Robinow syndrome NGS panel consists of six genes, including DVL1, which can also be used for diagnostic purposes [6].
Additional Diagnostic Tests
- Molecular genetic testing
- Exome sequencing and genome sequencing
- The Robinow syndrome NGS panel
Treatment
Autosomal dominant Robinow syndrome (ADRS) can be corrected using a drug treatment instead of surgery, according to recent research [7]. The study used i-GONAD based CRISPR/Cas9 gene editing technology to correct the genetic mutation causing ADRS.
The researchers found that this treatment was effective in correcting the manifestations of ADRS, including limb shortening and abnormalities of the head, face, and external genitalia [5].
It's worth noting that while drug treatment may be an option for some individuals with ADRS, it's not a cure-all solution. Each individual's case is unique, and treatment plans should be tailored to their specific needs.
In one reported case, a patient with ADRS initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age, resulting in favorable outcomes and increased height [9].
While these findings are promising, it's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on the individual's specific condition and needs.
References: [5] - The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. [7] - autosomal dominant Robinow Syndrome can be corrected using a drug instead of surgery. The researchers used i-GONAD based CRISPR/Cas9 ... [9] - The patient initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing his height from the < 1st ...
Recommended Medications
- Cas9 gene editing technology
- growth hormone treatment
💊 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 due to its rarity and overlapping features with other genetic disorders. However, several conditions can be considered in the differential diagnosis:
- Short-limbed dwarfism: This condition is characterized by short limbs and can be caused by various genetic mutations. It may present similarly to autosomal dominant Robinow syndrome.
- Achondroplasia: A common form of short-limbed dwarfism, achondroplasia can cause short stature, short arms and legs, and other skeletal abnormalities.
- Skeletal dysplasias: This group of disorders affects the development of bones and cartilage. Some forms, such as thanatophoric dysplasia or metaphyseal dysplasia, may present with similar features to autosomal dominant Robinow syndrome.
- Other genetic syndromes: Conditions like Turner syndrome, Down syndrome, or other chromosomal abnormalities can also cause short stature and skeletal anomalies.
It's essential to note that a definitive diagnosis of autosomal dominant Robinow syndrome typically requires genetic testing, particularly for mutations in the WNT5A or DVL1 genes. A thorough medical history, physical examination, and imaging studies (e.g., X-rays) may also be necessary to rule out other potential causes.
References:
- [3] Jul 5, 2022 — Autosomal dominant Robinow syndrome may involve mutation of several genes, including FZD2, WNT5A, DVL1 and DVL3. These genes are responsible for various developmental processes.
- [7] Jul 9, 2024 — Pathogenic variants in DVL1 are associated with autosomal dominant Robinow syndrome (ADRS), a genetic disorder characterized by skeletal abnormalities.
- [10] May 14, 2024 — The autosomal dominant form is due to mutation in the WNT5A gene or DVL1 gene. Some people with Robinow syndrome are without above mentioned features.
Additional Differential Diagnoses
- autosomal recessive Robinow syndrome 2
- Short-limbed dwarfism
- Skeletal dysplasias
- Other chromosomal abnormalities
- N syndrome
- Turner syndrome
- achondroplasia
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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.