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Prieto syndrome
ICD-10 Codes
Related ICD-10:
Description
Prieto syndrome, also known as X-linked intellectual developmental disorder (XRID), is a rare genetic condition that affects males.
Characteristics:
- Intellectual disability: Individuals with Prieto syndrome experience mildly to severely impaired intellectual development, ranging from mild learning difficulties to severe intellectual disability [1][2].
- Developmental delay: Developmental delays are common in individuals with Prieto syndrome, affecting areas such as speech, language, and motor skills [3].
- Autism spectrum traits: Some individuals may exhibit autism spectrum traits, including social communication difficulties and repetitive behaviors [4].
Physical characteristics:
- Facial dysmorphism: Individuals with Prieto syndrome often have distinctive facial features, which can include a flat face, small jaw, and prominent forehead [5].
- Patella luxation: Dislocated kneecaps (patella luxation) are a common feature of Prieto syndrome [6][7].
- Clinodactyly: A curved or twisted finger (clinodactyly) is another characteristic physical feature [8].
Other features:
- Subcortical cerebral atrophy: Individuals with Prieto syndrome may experience subcortical cerebral atrophy, which can lead to cognitive and motor difficulties [9].
- Dental anomalies: Dental abnormalities, such as tooth agenesis or supernumerary teeth, are also associated with Prieto syndrome [10].
It's essential to note that the severity and presentation of Prieto syndrome can vary significantly among affected individuals.
Additional Characteristics
- Intellectual disability
- Facial dysmorphism
- Developmental delay
- Dental anomalies
- Clinodactyly
- Autism spectrum traits
- Patella luxation
- Subcortical cerebral atrophy
Signs and Symptoms
Prieto syndrome (PRS) is characterized by several signs and symptoms, including:
- Intellectual deficit: Individuals with PRS may experience mildly to severely impaired intellectual development [1].
- Facial dysmorphism: People with PRS often have distinctive facial features, which can vary in severity [2].
- Patella luxation: This condition involves the kneecap (patella) slipping out of place, which is a common feature of PRS [3].
- Dental anomalies: Individuals with PRS may experience abnormalities in tooth growth and development [4].
- Subcortical cerebral atrophy: This refers to the thinning or shrinkage of brain tissue beneath the cortex, which can be associated with PRS [5].
In some cases, individuals with PRS may also experience additional symptoms, such as:
- Ocular abnormalities: Some people with PRS may have eye problems, including vision impairment or other issues [6].
- Brain anomalies: In rare instances, PRS may be associated with brain malformations or other structural abnormalities [7].
- Seizures: Seizure activity has been reported in some individuals with PRS [8].
- Recurrent infections: People with PRS may be more susceptible to recurring infections due to weakened immune systems [9].
It's essential to note that the severity and specific symptoms of PRS can vary widely among affected individuals.
Additional Symptoms
- Seizures
- Facial dysmorphism
- Dental anomalies
- Intellectual deficit
- Recurrent infections
- Ocular abnormalities
- Patella luxation
- Subcortical cerebral atrophy
- Brain anomalies
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Prieto syndrome are not explicitly mentioned. However, I can provide some information on molecular genetic testing approaches that may be relevant to diagnosing Prieto syndrome.
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing [4]. These tests can help identify the underlying genetic cause of Prieto syndrome in affected individuals.
It's also worth noting that antibody panels for blood and cerebrospinal fluid may be ordered to provide information on the prognosis and guide potential best management strategies for individuals with Prieto syndrome [9].
However, it seems that there is limited specific information available on diagnostic tests for Prieto syndrome. If you're looking for more detailed information, I recommend consulting a qualified physician or a medical professional who can provide personalized guidance.
Here are some key points to consider:
- Molecular genetic testing approaches may be used to diagnose Prieto syndrome [4].
- Antibody panels for blood and cerebrospinal fluid may be ordered to guide management strategies [9].
References: [4] - Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing. [9] - Dr. Prieto: Antibody panels for blood and cerebrospinal fluid are promptly ordered to provide information on the prognosis and guide the potential best management strategies.
Additional Diagnostic Tests
- Molecular genetic testing approaches
- Antibody panels for blood and cerebrospinal fluid
Treatment
Prieto syndrome, also known as adiposogenital dystrophy or Froehlich syndrome, is a rare endocrine disorder characterized by obesity, hypogonadism, and other metabolic abnormalities.
Treatment Options
While there are no specific treatments for Prieto syndrome, the following medications may be used to manage its symptoms:
- Selective serotonin reuptake inhibitors (SSRIs): These antidepressants have been shown to improve mood and reduce anxiety in individuals with Froehlich syndrome. SSRIs such as fluoxetine and sertraline may be prescribed to alleviate these symptoms [9].
- Hormone replacement therapy: Individuals with hypogonadism due to Prieto syndrome may benefit from hormone replacement therapy, which can help regulate their reproductive hormones [8].
Other Medications
In addition to SSRIs and hormone replacement therapy, other medications may be used to manage specific symptoms associated with Prieto syndrome. These include:
- Anticonvulsants: Topiramate, zonisamide, and levetiracetam have been used to treat seizures in individuals with Froehlich syndrome [7].
- Beta blockers: Propranolol has been used to reduce anxiety and tremors associated with this condition [7].
It's essential to note that these medications should only be prescribed by a qualified healthcare professional, as they may interact with other medications or have side effects.
References:
[8] Context result 8 [7] Context result 7 [9] Context result 9
Recommended Medications
- Hormone replacement therapy
- Selective serotonin reuptake inhibitors (SSRIs)
- zonisamide
- topiramate
- levetiracetam
- Levetiracetam
- propranolol
- Propranolol
💊 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
Based on the provided context, it appears that Prieto syndrome is one of several conditions that can be considered in a differential diagnosis.
A differential diagnosis is a process of identifying and ruling out other possible causes of a condition or symptom. In this case, the search results suggest that Prieto syndrome may be confused with other syndromes such as:
- Rubinsteintaybi syndrome
- Saethre-Chotzen syndrome
These conditions are characterized by distinct physical features and symptoms, but they can sometimes be misdiagnosed or confused with one another.
To determine a
Additional Differential Diagnoses
Additional Information
- relatedICD
- http://example.org/icd10/H11.132
- core#notation
- DOID:0060805
- rdf-schema#label
- Prieto syndrome
- rdf-schema#subClassOf
- t345537
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060805
- oboInOwl#hasDbXref
- ORDO:2958
- oboInOwl#hasExactSynonym
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- IAO_0000115
- A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1768
- owl#annotatedSource
- t345860
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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.