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chromosome 18p deletion syndrome
ICD-10 Codes
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Description
Chromosome 18p Deletion Syndrome: A Rare Chromosomal Abnormality
Chromosome 18p deletion syndrome, also known as 18p- syndrome or monosomy 18p, is a rare chromosomal disorder resulting from the deletion of all or part of the short arm (p) of chromosome 18. This condition affects approximately 1 in 50,000 live-born infants.
Main Clinical Features
The main clinical features of chromosome 18p deletion syndrome include:
- Short stature: Individuals with this condition often have short stature, which can range from mild to severe.
- Intellectual disability: Variable degrees of mental retardation are common, ranging from mild to severe.
- Facial dysmorphism: Facial abnormalities, such as a round face, short philtrum, palpebral ptosis, and large ears, are characteristic features.
- Dental anomalies: Dental problems, including malocclusion and tooth agenesis, are also common.
- Abnormalities of the limbs, genitalia, brain, eyes, and heart: Various other physical abnormalities can occur, affecting different parts of the body.
Other Features
In addition to these main clinical features, individuals with chromosome 18p deletion syndrome may experience:
- Speech delays: Speech development can be delayed or impaired.
- **Malformations of the skull and facial bones
Additional Characteristics
- Short stature
- Intellectual disability
- Facial dysmorphism (round face, short philtrum, palpebral ptosis, large ears)
- Dental anomalies (malocclusion, tooth agenesis)
- Abnormalities of the limbs, genitalia, brain, eyes, and heart
- Speech delays
- Malformations of the skull and facial bones
Signs and Symptoms
Chromosome 18p Deletion Syndrome: Signs and Symptoms
Individuals with chromosome 18p deletion syndrome may exhibit a range of physical, developmental, and behavioral characteristics. Some common signs and symptoms include:
- Developmental Delay: Affected individuals may experience delays in reaching developmental milestones, such as sitting, walking, or talking [2].
- Intellectual Disability: Intellectual deficiency is a common feature of chromosome 18p deletion syndrome, with affected individuals often experiencing significant cognitive impairment [3].
- Behavioral Problems: Individuals with this condition may exhibit behavioral problems, including hyperactivity, aggression, and mood swings [5].
- Distinctive Facial Features: Affected individuals may have distinctive facial features, such as a round face, short philtrum, palpebral ptosis, and large ears with detached pinnae [3].
- Short Stature: Short stature is another common feature of chromosome 18p deletion syndrome [4][7].
- Recurrent Seizures (Epilepsy): Recurrent seizures are a frequent occurrence in individuals with this condition [6].
- Weak Muscle Tone (Hypotonia): Affected individuals may experience weak muscle tone, which can lead to difficulties with movement and coordination [6].
It's essential to note that the severity and presentation of these symptoms can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.
References:
[1] Not provided in context [2] Context #2 [3] Context #3 [4] Context #8 [5] Context #5 [6] Context #6 [7] Context #7
Additional Symptoms
- Intellectual Disability
- Developmental Delay
- Distinctive Facial Features
- Weak Muscle Tone (Hypotonia)
- Behavioral Problems
- Recurrent Seizures (Epilepsy)
- short stature
Diagnostic Tests
Diagnostic Tests for Chromosome 18p Deletion Syndrome
Chromosome 18p deletion syndrome can be diagnosed through various prenatal and postnatal tests.
- Amniocentesis: This test involves withdrawing a sample of amniotic fluid from the uterus to analyze the fetal chromosomes. Amniocentesis can detect deletions in chromosome 18p, including de novo monosomy 18p deletion syndrome [2].
- Chorionic Villus Sampling (CVS): CVS is another prenatal test that involves taking a sample of cells from the placenta to analyze the fetal chromosomes. CVS can also detect deletions in chromosome 18p [6].
- Cytogenetic Testing: This test involves analyzing the fetal chromosomes using specialized techniques such as G-banding and fluorescence in situ hybridization (FISH). Cytogenetic testing can confirm the diagnosis of chromosome 18p deletion syndrome, including tetrasomy 18p [8].
- Blood Test for Parents' Chromosomes: A blood test to check both parents' chromosomes is needed to find out why the 18p deletion occurred in some cases. This test can help identify genetic mutations that may be contributing to the deletion [5].
These diagnostic tests can provide accurate results and help confirm the diagnosis of chromosome 18p deletion syndrome.
References: [1] Not applicable [2] Context #2: "The 3 cases were diagnosed with de novo monosomy 18p deletion syndrome by amniocentesis and chromosome microarray analysis (CMA)." [3] Not applicable [4] Context #6: "Deletion 18p can be detected prenatally by amniocentesis or chorionic villus sampling and cytogenetic testing." [5] Context #5: "A blood test to check both parents' chromosomes is needed to find out why the 18p deletion occurred. In 85-89..." [6] Context #4: "The 3 cases were diagnosed with de novo monosomy 18p deletion syndrome by amniocentesis and chromosome microarray analysis (CMA)." [7] Not applicable [8] Context #8: "Tetrasomy 18p was finally diagnosed by G-banding and fluorescence in situ hybridization of chromosome 18p, before invasive confirmatory testing the karyotype..."
Additional Diagnostic Tests
- Amniocentesis
- Chorionic Villus Sampling (CVS)
- Cytogenetic Testing
- Blood Test for Parents' Chromosomes
Treatment
Current Status of Drug Treatment
There is currently no specific drug treatment for chromosome 18p deletion syndrome, except for speech therapy and early educational programs that may help improve performances in individuals with this condition [4]. However, some studies have reported modest benefits from pharmacological treatment, including diazepam, in managing symptoms associated with this syndrome [2].
Limited Efficacy of Pharmacological Treatment
Dystonia has been reported in a small number of individuals with 18p-, and no effective management has been reported to date [6]. Similarly, there is limited efficacy of pharmacological treatment in managing other symptoms associated with this condition.
No Specific Treatment Exists
As for other chromosomal disorders, no specific treatment exists for deletion 18p syndrome [7]. Early diagnosis and hormone replacement therapy with levothyroxine, GH, and hydrocortisone may enable individuals to manage some of the symptoms associated with this condition [1].
Growth Hormone Replacement Therapy
Most children on growth hormone replacement therapy were responding well to the treatment [9]. However, it is essential to note that these findings are based on a limited number of cases, and more research is needed to fully understand the effectiveness of this treatment approach.
In summary, while there is no specific drug treatment for chromosome 18p deletion syndrome, some individuals may benefit from pharmacological treatment or hormone replacement therapy. However, more research is necessary to determine the efficacy of these treatments in managing symptoms associated with this condition.
References: [1] by A Yang · 2019 · Cited by 17 [2] by SR Duma · 2019 · Cited by 3 [4] by H Qi · 2019 · Cited by 10 [6] by SR Duma · 2019 · Cited by 3 [7] by C Turleau · 2008 · Cited by 143 [9] by FA Kasasbeh · 2011 · Cited by 10
Recommended Medications
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Differential Diagnosis
Understanding Differential Diagnosis for Chromosome 18p Deletion Syndrome
Chromosome 18p deletion syndrome, also known as 18p- syndrome, is a rare genetic disorder caused by the deletion of part or
Additional Differential Diagnoses
- chromosome 18p deletion syndrome
- 18p- syndrome
Additional Information
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- disease_ontology
- oboInOwl#creation_date
- 2015-09-28T17:01:47Z
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- DOID:0060406
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- elvira
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- UMLS_CUI:C0432442
- oboInOwl#hasExactSynonym
- monosomy 18p
- IAO_0000115
- A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- relatedICD
- http://example.org/icd10/Q71.23
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- https://w3id.org/def/predibionto#has_symptom_1432
- owl#annotatedSource
- t341188
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- DOID:0060406
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- chromosome 18p deletion syndrome
- rdf-schema#subClassOf
- t340831
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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