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MEHMO syndrome
ICD-10 Codes
Related ICD-10:
Description
MEHMO Syndrome: A Rare X-linked Intellectual Disability Disorder
MEHMO syndrome, also known as Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity, is a rare X-linked intellectual disability disorder characterized by a range of severe symptoms.
- Intellectual Disability: MEHMO syndrome is marked by mild to profound intellectual disability, which affects an individual's cognitive abilities and daily functioning [1][2].
- Microcephaly: Individuals with MEHMO syndrome often have microcephaly, a condition where the head circumference is smaller than average [3][4].
- Growth Delay: Growth delay is another characteristic feature of MEHMO syndrome, which can lead to short stature and delayed puberty [5][6].
- Hypogenitalism: Hypogenitalism, or underdeveloped genitalia, is a common symptom in individuals with MEHMO syndrome [7][8].
- Epileptic Seizures: Epileptic seizures are also prevalent in MEHMO syndrome, which can range from mild to severe and may require medical attention [9][10].
- Obesity: Obesity is another feature of MEHMO syndrome, which can increase the risk of various health complications [11].
References:
[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 5 [5] Context 6 [6] Context 7 [7] Context 8 [8] Context 9
Additional Characteristics
- Microcephaly
- Growth Delay
- Intellectual Disability
- Obesity
- Epileptic Seizures
- Hypogenitalism
Signs and Symptoms
MEHMO Syndrome Signs and Symptoms
MEHMO syndrome is characterized by a combination of severe intellectual deficit, epilepsy, microcephaly (small head size), hypogenitalism (underdeveloped genitalia), and obesity. Growth delay and diabetes are also present in some cases.
- Intellectual Disability: MEHMO syndrome is associated with mild to profound intellectual disability [1].
- Epileptic Seizures: Epilepsy is a common feature of MEHMO syndrome, indicating abnormal electrical activity in the brain [2].
- Microcephaly: Small head size is a characteristic feature of MEHMO syndrome, which can be detected at birth or during early childhood [3].
- Hypogenitalism: Underdeveloped genitalia are a hallmark of MEHMO syndrome, affecting both males and females [4].
- Obesity: Obesity is a common feature of MEHMO syndrome, often accompanied by glucose dysregulation and diabetes [5].
- Growth Delay: Growth delay is another characteristic feature of MEHMO syndrome, which can be detected during early childhood [6].
Additionally, some individuals with MEHMO syndrome may exhibit other symptoms such as:
- Broad nasal tip
- Cleft lip
- Cleft palate
- Depressed nasal tip
- Drooling
- Long face
- Long philtrum
- Open mouth
These symptoms can vary in severity and presentation, making MEHMO syndrome a complex condition to diagnose and manage.
References: [1] - Context 1 [2] - Context 2 [3] - Context 4 [4] - Context 5 [5] - Context 9 [6] - Context 8
Additional Symptoms
- Long philtrum
- Microcephaly
- Cleft palate
- Cleft lip
- Drooling
- Growth Delay
- Intellectual Disability
- Obesity
- Broad nasal tip
- Epileptic Seizures
- Hypogenitalism
- Depressed nasal tip
- Long face
- Open mouth
Diagnostic Tests
Diagnostic Tests for MEHMO Syndrome
MEHMO syndrome, also known as EIF2S3-related intellectual disability, is a rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Diagnostic tests are essential in confirming the diagnosis of this condition.
- Whole Exome Sequencing (WES) and X-exome sequencing: These are the most common approaches for detecting pathogenic variants in patients with MEHMO syndrome [4]. WES involves sequencing all protein-coding genes in a patient's genome, while X-exome sequencing focuses on the X chromosome.
- Genetic testing: Genetic tests can be performed to identify mutations in the EIF2S3 gene, which is associated with MEHMO syndrome. These tests are available from laboratories around the world, including those in the US [1].
- Imaging studies: Imaging studies such as MRI and CT scans may be used to rule out other conditions that may present with similar symptoms. However, these studies are not specific for MEHMO syndrome.
- Clinical evaluation: A comprehensive clinical evaluation by a qualified healthcare professional is essential in diagnosing MEHMO syndrome. This involves assessing the patient's medical history, physical examination, and laboratory tests.
It's worth noting that diagnostic testing for MEHMO syndrome should be performed under the guidance of a qualified healthcare professional. If you suspect that someone may have MEHMO syndrome, it's essential to consult with a healthcare provider who has experience in diagnosing rare genetic disorders.
References:
[1] Clinical resource with information about MEHMO syndrome and its clinical features, EIF2S3, available genetic tests from US and labs around the world and ...
[4] by N Ivanova · 2022 · Cited by 3 — Whole exome sequencing (WES) and X-exome sequencing are the most common approaches for the detection of pathogenic variants in patients with MEHMO syndrome.
Additional Diagnostic Tests
- Whole Exome Sequencing (WES) and X-exome sequencing
- Genetic testing for EIF2S3 gene mutations
- Imaging studies (MRI, CT scans)
- Clinical evaluation by a qualified healthcare professional
Treatment
Treatment Options for MEHMO Syndrome
MEHMO syndrome, a rare X-linked syndromic intellectual disability, has been found to have some promising treatment options.
- ISRIB (Integrated Stress Response Inhibitor): Research has shown that the addition of ISRIB can restore normal cell function in individuals with MEHMO syndrome. This drug works by activating the eIF2 guanine nucleotide exchange factor, which rescues cell growth, translation, and neuronal differentiation [3][4].
- Ketogenic Diet (KD) Therapy: A study found that KD therapy was effective in treating refractory epilepsy associated with MEHMO syndrome, and also helped control diabetes when combined with insulin therapy [7].
These treatment options are still being researched and explored, but they offer some hope for individuals affected by this rare disorder.
References:
- [1] Dec 16, 2019 — A drug called ISRIB (integrated stress response inhibitor) restored the normal function of cells from a person with the rare disorder MEHMO syndrome.
- [3] by SK Young-Baird · 2020 · Cited by 40 — Addition of the drug ISRIB, an activator of the eIF2 guanine nucleotide exchange factor, rescues the cell growth, translation, and neuronal ...
- [4] by SK Young-Baird · 2020 · Cited by 40 — Addition of the drug ISRIB, an activator of the eIF2 guanine nucleotide exchange factor, rescues the cell growth, translation, and neuronal ...
- [7] by M Mori · 2021 · Cited by 10 — The KD therapy was effective in the treatment of his refractory epilepsy and seemed to have helped control diabetes in combination with insulin therapy.
Recommended Medications
- Ketogenic Diet (KD) Therapy
- inhibitor
💊 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
MEHMO Syndrome Differential Diagnosis
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) syndrome is a rare X-linked intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. When diagnosing MEHMO syndrome, it's essential to consider other conditions that may present with similar symptoms.
Conditions to Consider:
- X-linked Intellectual Disability (XLID): MEHMO syndrome is a type of XLID, which means it's inherited in an X-linked pattern. Other forms of XLID should be considered in the differential diagnosis.
- Epileptic Encephalopathy: The presence of epileptic seizures in MEHMO syndrome may suggest other conditions such as Epileptic Encephalopathy, which is characterized by severe intellectual disability and epilepsy.
- Microcephaly: Microcephaly, a condition where the head circumference is significantly smaller than average, can be associated with various genetic disorders. Other microcephalic syndromes should be considered in the differential diagnosis.
- Hypogonadism: Hypogenitalism, a feature of MEHMO syndrome, may also be present in other conditions such as Kallmann Syndrome or Prader-Willi Syndrome.
Key Features to Distinguish MEHMO from Other Conditions:
- Genetic Analysis: Genetic testing can help identify the EIF2S3 gene mutations associated with MEHMO syndrome.
- Clinical Presentation: The presence of mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism in males is characteristic of MEHMO syndrome.
- Epileptic Seizures: The occurrence of epileptic seizures in MEHMO syndrome may suggest other conditions such as Epileptic Encephalopathy.
References:
- [3] MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental ... (Source 3)
- [4] MEHMO syndrome is a rare type of X-linked intellectual disability (XLID) accompanied by epileptic seizures, hypogenitalism, microcephaly, and obesity (OMIM ... (Source 4)
- [5] MEHMO syndrome should be suspected early in male patients with a milder phenotype of learning difficulties, growth delay and hormonal deficiencies as well as ... (Source 5)
Note: The above information is based on the search results provided and may not be an exhaustive list of conditions to consider in the differential diagnosis of MEHMO syndrome.
Additional Differential Diagnoses
- X-linked Intellectual Disability (XLID)
- Epileptic Encephalopathy
- Microcephaly with various genetic disorders
- Hypogonadism including Kallmann Syndrome and Prader-Willi Syndrome
Additional Information
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- https://w3id.org/def/predibionto#has_symptom_1764
- owl#annotatedSource
- t345640
- core#notation
- DOID:0060801
- rdf-schema#label
- MEHMO syndrome
- rdf-schema#subClassOf
- t345630
- relatedICD
- http://example.org/icd10/L76.02
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- oboInOwl#hasOBONamespace
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- oboInOwl#id
- DOID:0060801
- oboInOwl#hasDbXref
- UMLS_CUI:C1846278
- oboInOwl#hasExactSynonym
- X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
- IAO_0000115
- A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
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