4 free views remaining today
mulibrey nanism
ICD-10 Codes
Related ICD-10:
Description
Mulibrey nanism, also known as Mulibrey disease, is a rare genetic disorder that affects multiple organs and systems in the body.
Characteristics of Mulibrey Nanism
- Growth Delay: Mulibrey nanism is characterized by profound growth delays, which can result in dwarfism.
- Muscle Abnormalities: The muscles are affected, leading to muscle weakness and wasting.
- Liver Abnormalities: The liver is also affected, with abnormalities such as cirrhosis or fibrosis.
- Brain and Eye Abnormalities: There are distinctive abnormalities of the brain and eyes, including developmental delays and visual impairments.
Other Symptoms
- Cardiomyopathy: Some individuals may experience progressive cardiomyopathy, which can lead to heart failure.
- Facial Features: Characteristic facial features, such as a small nose and jaw, are often present.
- Developmental Delays: Developmental delays and intellectual disability may also occur.
Causes and Genetics
- Autosomal Recessive Inheritance: Mulibrey nanism is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to be affected.
- TRIM37 Gene Mutation: The disorder is caused by mutations in the TRIM37 gene, which encodes a protein of unknown function.
References
- [1] Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. [3]
- [2] Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, and developmental delays. [4][6]
- [3] Mulibrey nanism is a rare autosomal recessive congenital disorder characterized by severe growth failure along with abnormalities of the heart, muscle, liver, brain, and eyes. [5]
- [4] Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disorder caused by mutations in TRIM37 gene and characterized by growth failure with distinctive facial features. [7]
- [5] Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and developmental delays. [8]
- [6] It is an extremely rare inherited disorder characterized by the presence of dwarfism and distinctive abnormalities of the muscles, liver, brain, and eyes. [9]
Additional Characteristics
- Cardiomyopathy
- Growth Delay
- Muscle Abnormalities
- Liver Abnormalities
- Brain and Eye Abnormalities
- Facial Features
- Developmental Delays
Signs and Symptoms
Mulibrey nanism, a rare genetic disorder, is characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes [13]. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism.
Some of the common signs and symptoms of mulibrey nanism include:
- Growth failure: Progressive growth failure that begins before birth [1]
- Triangular face shape: Infants often have a triangularly shaped face [1]
- Yellow discoloration deep within the eyes: Ocular abnormalities may be present, but vision is usually normal [1]
- Low muscle tone: Muscle hypotonia is a common symptom in infancy [5]
- Constrictive pericarditis: A rare heart condition that can occur in some cases [3]
- Growth restriction: Pre- and postnatal growth restriction are characteristic features of the disorder [8, 12]
- Relative macrocephaly: Infants may have a relatively large head size compared to their body [8, 12]
- Thin extremities: Thin arms and legs are often present in individuals with mulibrey nanism [8, 12]
These symptoms can vary in severity and may not be present in all cases of mulibrey nanism. A diagnosis is typically made through genetic testing and physical examination.
References: [1] - Context result 1 [3] - Context result 3 [5] - Context result 5 [8] - Context result 8 [12] - Context result 12 [13] - Context result 13
Additional Symptoms
- Growth failure
- Triangular face shape
- Yellow discoloration deep within the eyes
- Low muscle tone
- Constrictive pericarditis
- Growth restriction
- Relative macrocephaly
- Thin extremities
Diagnostic Tests
Mulibrey nanism, also known as Mulibrey disease, can be diagnosed through a combination of clinical evaluation and specialized tests.
Clinical Evaluation The diagnosis of Mulibrey nanism may be suspected based on characteristic physical findings, such as short stature, muscle weakness, and other specific signs [2]. A thorough clinical evaluation by a healthcare professional is essential to confirm the diagnosis.
Specialized Tests Several tests can help confirm the diagnosis of Mulibrey nanism:
- Genetic testing: Molecular genetic testing for the TRIM37 gene can identify mutations associated with the disease [3, 5].
- Liver function tests: Elevated liver enzymes and GGT levels may be observed in individuals with Mulibrey nanism [6].
- Imaging studies: Brain MRI may show hypoplasia of the adenohypophysis, mega cisterna magna, or arachnoid cysts [6].
Diagnostic Criteria Major and minor signs for clinical diagnosis have been established. Molecular diagnostics can confirm the diagnosis by identifying mutations in the TRIM37 gene [7]. Diagnostic testing of this gene is recommended to identify a potential genetic basis for the condition.
Prognostic Value Genetic testing can inform prognosis and clinical management of Mulibrey nanism [8].
References: [1] Not applicable [2] Context 2 [3] Context 3 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8
Additional Diagnostic Tests
- Liver function tests
- Genetic testing
- Imaging studies
Treatment
Based on the context provided, here are some potential answers related to drug treatment for Mulibrey Nanism:
- Growth Hormone Treatment: According to a study published in 2007, growth hormone treatment was found to be safe and induced a good short-term effect in patients with Mulibrey Nanism.
- Immunoglobulin Replacement Therapy (IVIG): A case report from 2023 mentions that IVIG replacement therapy was initiated in a patient with progressive lymphopenia starting at the age of 10 years.
Please note that these are specific instances and may not be comprehensive or up-to-date information on drug treatment for Mulibrey Nanism. If you're looking for more detailed or recent information, I recommend consulting medical literature or a healthcare professional.
Would you like me to search again or ask something else?
Recommended Medications
- Growth Hormone Treatment
- Immunoglobulin Replacement Therapy (IVIG)
💊 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
Mulibrey nanism, a rare autosomal recessive growth disorder, requires careful differential diagnosis to rule out other conditions that may present similar symptoms. Based on the search results, here are some key points to consider:
- Silver-Russel syndrome: This condition is characterized by proportionate short stature and normal head circumference, which can be similar to mulibrey nanism [5]. However, mulibrey nanism typically presents with more severe growth failure and additional abnormalities of the heart, muscle, liver, brain, and eyes.
- 3-M syndrome: Also known as thanatophoric dysplasia type 3, this condition shares some clinical aspects with mulibrey nanism, including prenatal onset growth failure [2]. However, 3-M syndrome is typically associated with more severe skeletal abnormalities and a higher risk of mortality.
- Peroxisomal disorders: Mulibrey nanism can be distinguished from peroxisomal disorders by the lack of major neurological manifestations and mental retardation [3].
The main differential diagnosis for mulibrey nanism includes:
- Silver-Russel syndrome
- 3-M syndrome (thanatophoric dysplasia type 3)
- Peroxisomal disorders
It's essential to consider these conditions when diagnosing mulibrey nanism, as they can present with similar symptoms. A thorough medical evaluation and genetic testing may be necessary to confirm the diagnosis.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [5] Context result 5
Additional Differential Diagnoses
- 3-M syndrome (thanatophoric dysplasia type 3)
- N syndrome
- Peroxisomal disorders
- Silver-Russell syndrome
Additional Information
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050436
- rdf-schema#label
- mulibrey nanism
- rdf-schema#subClassOf
- t332560
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050436
- oboInOwl#hasDbXref
- UMLS_CUI:C0524582
- IAO_0000115
- A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
- oboInOwl#hasExactSynonym
- PERICARDIAL CONSTRICTION AND GROWTH FAILURE
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
- http://example.org/icd10/M84.852
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_485
- owl#annotatedSource
- t332031
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
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.