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Prieto syndrome

ICD-10 Codes

Related ICD-10:

D36.14 H90.71 M86.332 Q26.9 C4A.30 E80.0 G90.59 H80.10 Q07 Q80 Q80.1 Q92.9 H21.269 G25.89 G50 L66.4 N02.3 E70.329 I42.2 L51.1 M61.29 L90.3 M86.359 Q98.8 C86.30 E85.2 G71.12 H02.429 Q27 E75.242 E85.0 L57.1 H35.721 E71.542 E32 C81.41 E71.312 Q75.058 M92.3 L81.6 H21.242 G71.22 L90.1 Q89.1 H35.069 R61 H16.441 D17.1 D47.3 H49.3 I89 H49.43 D81.32 H21.243 L57.2 C93.1 E70.321 H11.059 G51.31 Q12.8 I49.2 L41.1 E72.89 H47.291 M89.31 I73.1 L41.5 H21.251 I78.1 R94.6 E88.8 F95.1 E74.818 D58.8 L98.7 H18.013 D74.0 H33.19 Z87.768 E71.12 L74.8 H02.864 Q75.05 H18.022 F78.A1 E74.05 E27.0 D55.21 E78.9 H05.41 G40.842 H02.422 D82.0 R22 H16.413 R76.9 L95.1 L66.2 Q99.9 E78.01 E04.2 H01.132 H80.12 G51.33 M61.27 M89.531 H20.822 E79.9 H02.421 E72.3 L41.3 D75.84 H21.562 E72.19 H30.811 H31.123 H33.23 L51.2 I67.841 D44.6 E71.42 E88.89 C47.8 M43.8 E83.0 G90.B Q82.8 C4A.11 L44.4 H90.5 E71.1 Q21 C96.6 H35.021 H15.05 M94.1 Q82.4 D58.1 H16.051 L66.81 K11.1 E71.540 G44.091 G52.2 E80.21 E72.52 H49.81 E74.31 T56.5X1 E70.8 D36.11 L75.9 L74.510 M86.311 G23.8 R94.131 G90.512 H02.722 S00.22 D22.2 D81.5 G40.843 Q34.8 Q75.001 M89.49 Q81.2 H52.513 Q18.0 M34.1 G71.9 H18.59 G90.513 H21.261 L94.8 Q75.08 Q96.3 E80.29 L75.8 G31.89 G90.1 R19.03 E80.2 Q75.1 Q85.81 Q44.5 Q80.4 H04.213 D59.8 H33.033 D89.82 H11.132 M86.331 E79.2 B42.1 E76.8 M61.23 L91 H10.51 Q92.1 H18.021 C84.A I51.5 E70.81 G90.5 Q13 Q68.0 Q21.8 T32.11 H18.32 J38.01 L43.2 Q79 L51 C47 M04.2 Q64 H15.052 C84.A1 E77.9 H55.89 L13.1 T39.1X5 E74.10 H16.059 S60.42 C08 L74.4 Q87.0 L87.8 E25.0 G54.5 G40.84 H02.824 D81.82 E77.8 A26.7 A67.0 H15.85 L66.3 M35.6 Q55.2 Q55.20 H35.89 Q25.4 Q91.5 D89.42 H02.015 M89.421 E74.19 G72.49 H02.232 I67.850 D72.818 E76.211 E88.1 G23 G11.19 E71.3 H11.133 H31.20 G51.32 E71.528 C69.31 H02.511 Q70.4 E70.32 E70.49 G71.031 G04.3 G58.8 Q87.84 H11.4 C86.3 E75.29 L68.9 T32.97 M26.03 I78.8 M21.33 H02.72 H02.51 M61.21 E20.810 D17.23 D81.819 G61.81 M61.15 H90.A3 I49.49 C09.0 E75.19 E85.82 Q85.82 Q84.2 D68.31 Q10.6 E85.1 H57.0 Q89 H18.063 E71.314 L72.2 H44.532 H80.01 M54.03 G93.44 K13.24 E20.89 L40.0 Q75.5 H35.013 Q78.6 H18.051 Q27.8 Q43.8 E71.541 G71.11 G51.39 H05.413 H90.72 H11.053 E70.5 Q28.8 M86.339 L10.3 H16.123 G90.09 L94.5 N52.03 E71.53 C84.15 D84.0 E32.9 L44.0 Q91.6 N48.32 N48.39 H35.733 Q14.2 C4A.111 E88.49 H02.514 H21.272 E79 H02.862 H71.33 Q77.6 G71.02 D72.0 G90.51 G90.511 M89.461 D81.810 E71.19 H18.833 Q15 T32.40 Q75.4 D64.1 E70.89 Q70.03 G31.9 H90.A32 C06.0 Q28 Q30.2 Q67 E71.50 T32.30 E72.59 H35.723 L57.3 Q55.29 H02.433 E78.79 Q18 H02.825 H80.1 B08.6 E71.41 L86 D89.44 E71.51 E71.518 H16.401 C4A.9 E75.6 G11.4 G71.228 H02.516 E76 I89.8 E16.8 C86.6 Q74.9 Q91.7 E74.820 M89.72 E83.32 K14.3 D61.8 E74.810 I78.0 H18.02 I44.3 Q93.88 G90.52 C96.0 E80 E80.7 M61.222 D47.0 E79.89 Q98.5 G60.0 Q14.3 D22.12 C4A.2 K14.4 M89.411 Q87.82 D70.0 G51.2 G71.032 H90.A21 E70.320 E75.5 Q89.7 E70.29 E70.328 E71.313 E71.111 G73.1 G52.1 L11.0 L66.0 G83.8 H02.872 C07 E70.4 H02.42 H02.423 L66.89 Q82.2 G71.220 M89.441 G46.8 H18.03 L12.3 H16.143 G71.0342 G11.6 I47.21 L87.0 L40.3 Q66.3 E22.8 H02.865 R25.3 E71.4 E71.40 H53.61 D75.0 G71.19 I69.365 M86.3 E32.0 Q87.8 D23.22 H18.509 P83.0 L75 G44.099 H20.82 H50.17 Q75.042 H05.033 Q82 E75.0 G98 D47.01 G04.02 H05.411 C4A.39 G23.0 D35.5 H21.43 Q87.85 E71.54 H35.353 C75.2 Q44.3 M84.87 G40.42 M61.272 H16.052 Q82.3 C4A.5 Q78.3 D11.0 G71.09 I45.6 M84.85 C75.4 C84.11 C86.31 H80.13 T56.3X1 G71.034 H16.411 H02.512 L87.2 E71.440 H21.241 M26.07 H35.022 H47.292 H81.01 Q75.052 E80.6 C4A.4 C4A.59 Q26.8 G90.519 D11.9 Q87 B41.7 D81.818 Z15.81 G11.10 H35.42 H57.8 L85.2 Q93.3 G60.1 E71.44 M61.241 Q38.4 H47.22 L68.2 E71.520 L40.2 H02.212

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

💊 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 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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