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Warsaw breakage syndrome
ICD-10 Codes
Related ICD-10:
Description
Warsaw Breakage Syndrome (WBS): A Rare Genetic Disorder
Warsaw Breakage Syndrome (WBS) is a rare genetic disorder characterized by severe growth retardation and microcephaly [8]. It is a new form of cohesinopathy, which shows defects in sister chromatid cohesion [4].
Individuals with WBS may exhibit distinctive facial features, including a small forehead, short nose, small lower jaw, flat area between the nose and upper lip (flat philtrum), relatively large mouth, bilateral epicanthal folds, high palate, and prominent cheeks [5]. They also have impaired growth from birth leading to short stature and a small head size (microcephaly) [6].
WBS is caused by bi-allelic mutations in the DDX11 gene, which codes for the DNA helicase DDX11 [3]. This genetic condition is characterized by smaller than average head circumference (microcephaly) as early as the embryonic stage, intrauterine growth restriction, and postnatal growth retardation [7].
WBS is a rare disorder related to cohesinopathies and Fanconi anemia, with only a few reported cases in medical literature [9]. It is essential for healthcare professionals to be aware of this condition to provide accurate diagnosis and management.
References:
- [3] Pisani FM. Warsaw breakage syndrome (WABS): A very rare recessive hereditary disease caused by mutations in the gene coding for the DNA helicase DDX11.
- [4] A new form of cohesinopathy showing defects in sister chromatid cohesion.
- [5] Small and elongated face · Narrow bifrontal diameter · Prominent cheeks · Small nares · Flat philtrum · Relatively large mouth · Bilateral epicanthal folds · High ...
- [6] Feb 1, 2014 — They also have impaired growth from birth leading to short stature and a small head size (microcephaly).
- [7] Mar 16, 2021 — This genetic condition is characterized by smaller than average head circumference (microcephaly) as early as the embryonic stage, intrauterine growth ...
- [8] Warsaw Breakage Syndrome is a rare genetic condition characterized by pre- and postnatal growth restriction, severe microcephaly, and mild to severe ...
- [9] van Schie JJM. Warsaw Breakage Syndrome (WABS): A rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11.
Additional Characteristics
- microcephaly
- severe growth retardation
- distinctive facial features
- small forehead
- short nose
- small lower jaw
- flat philtrum
- relatively large mouth
- bilateral epicanthal folds
- high palate
- prominent cheeks
- impaired growth from birth leading to short stature and a small head size (microcephaly)
- bi-allelic mutations in the DDX11 gene
- smaller than average head circumference (microcephaly) as early as the embryonic stage, intrauterine growth restriction, and postnatal growth retardation
- related to cohesinopathies and Fanconi anemia
Signs and Symptoms
Distinctive Facial Features and Growth Restriction
Individuals with Warsaw Breakage Syndrome (WBS) may exhibit distinctive facial features, including a small forehead, short nose, small lower jaw, and a flat area between the nose and upper lip [1][3]. Additionally, affected individuals often experience severe growth restriction, which can manifest as microcephaly (small head size), pre- and postnatal growth delay, and reduced overall height [2][4][5].
Sensorineural Hearing Loss
WBS is also characterized by sensorineural hearing loss due to cochlear hypoplasia (underdevelopment of the inner ear's cochlea) [2]. This can lead to significant hearing impairments in affected individuals.
Other Anomalies and Complications
Other anomalies associated with WBS include skin color abnormalities, lung hypoplasia (underdeveloped lungs), increased liver-brain ratio, unilateral kidney dysplasia, and intellectual disability [7][8].
Clinical Triad of Symptoms
The clinical triad of symptoms for WBS includes severe microcephaly, growth restriction, and hearing loss. This combination of symptoms is a key diagnostic feature of the syndrome.
References: [1] Context result 3 [2] Context result 2 [3] Context result 1 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8
Additional Symptoms
- intellectual disability
- sensorineural hearing loss
- microcephaly (small head size)
- growth restriction
- distinctive facial features
- pre- and postnatal growth delay
- reduced overall height
- cochlear hypoplasia (underdevelopment of the inner ear's cochlea)
- skin color abnormalities
- lung hypoplasia (underdeveloped lungs)
- increased liver-brain ratio
- unilateral kidney dysplasia
Diagnostic Tests
Based on the provided context, here are the diagnostic tests for Warsaw breakage syndrome:
- Molecular genetic testing: This involves identifying biallelic pathogenic variants in the DDX11 gene (1).
- Genetic tests: These are available from US labs and other international laboratories (2).
- Chromosome analysis: Increased chromosome breakage in cultured patient lymphocytes can be used to diagnose Warsaw breakage syndrome (8).
It's worth noting that Warsaw breakage syndrome is a rare genetic disorder, and diagnosis may require specialized testing and expertise.
References: (1) Context result 1 (2) Context result 2 (8) Context result 8
Additional Diagnostic Tests
- Genetic tests
- Molecular genetic testing
- Chromosome analysis
Treatment
Current Treatment Options for Warsaw Breakage Syndrome
Unfortunately, there is no known curative treatment for Warsaw Breakage Syndrome (WBS). However, various treatments can help manage the symptoms and manifestations associated with this condition.
- Nutritional Support: Patients may require supplementary formula or gastrostomy tube to optimize nutrition, especially if they have difficulty eating or swallowing [1].
- Hearing Loss Treatment: Treatments for hearing loss include cochlear implants or other auditory rehabilitation therapies [1].
It's essential to note that Warsaw Breakage Syndrome is a rare and complex condition, and treatment plans should be tailored to individual needs. Consultation with a qualified healthcare professional is crucial for medical advice and treatment.
Current Research and Developments
Research on Warsaw Breakage Syndrome is ongoing, but no specific therapy has been developed or approved for this condition [7]. Further studies are needed to understand the underlying mechanisms of WBS and explore potential therapeutic options.
References:
[1] Context result 1 [3] Context result 3 [6] Context result 6 [7] Context result 7
Recommended Medications
- Nutritional Support
- Hearing Loss 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
Warsaw breakage syndrome (WBS) is a rare genetic disorder characterized by cellular defects in DNA repair, growth restriction, and intellectual disability. When considering the differential diagnosis for WBS, several other conditions should be taken into account.
Similarities with Fanconi Anemia
- DNA repair defects: Like WBS, Fanconi anemia (FA) is also associated with defects in DNA repair mechanisms [5]. This similarity suggests that FA could be a potential differential diagnosis.
- Growth restriction and intellectual disability: Both WBS and FA are characterized by growth restriction and intellectual disability, which can make it challenging to distinguish between the two conditions.
Other Conditions to Consider
- Cohesinopathies: Cohesinopathies are a group of disorders caused by mutations in cohesin-related genes. These conditions share similarities with WBS, including growth restriction and intellectual disability [6].
- Microcephaly syndromes: Microcephaly is a characteristic feature of WBS. Other microcephaly syndromes, such as primary microcephaly, should be considered in the differential diagnosis.
- Growth hormone deficiency: Growth hormone deficiency can cause growth restriction and intellectual disability, making it a potential differential diagnosis for WBS.
Key Features to Distinguish WBS from Other Conditions
- Microcephaly: While microcephaly is a feature of several conditions, the severity and type of microcephaly in WBS are distinct [7].
- Facial dysmorphism: The facial features associated with WBS are unique and can help distinguish it from other growth restriction syndromes.
- Abnormal skin pigmentation: Abnormal skin pigmentation is a characteristic feature of WBS that may not be present in other conditions.
In conclusion, the differential diagnosis for Warsaw breakage syndrome includes Fanconi anemia, cohesinopathies, microcephaly syndromes, and growth hormone deficiency. However, key features such as microcephaly, facial dysmorphism, and abnormal skin pigmentation can help distinguish WBS from these other conditions.
References: [5] by P van der Lelij · 2010 · Cited by 238 [6] by JJM van Schie · 2020 · Cited by 47 [7] A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features ...
Additional Differential Diagnoses
- Warsaw breakage syndrome
- Growth Hormone Deficiency
- Cohesinopathies
- Microcephaly Syndromes
- Fanconi anemia
Additional Information
- relatedICD
- http://example.org/icd10/Z89.621
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- DOID:0060535
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- WABS
- IAO_0000115
- A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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- t341174
- core#notation
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- Warsaw breakage syndrome
- rdf-schema#subClassOf
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- http://www.w3.org/2002/07/owl#Class
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