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chromosome 3q13.31 deletion syndrome
ICD-10 Codes
Related ICD-10:
Description
Chromosome 3q13.31 Deletion Syndrome: A Rare Chromosomal Anomaly
The chromosome 3q13.31 deletion syndrome is a rare genetic disorder caused by the partial deletion of the long arm of chromosome 3. This condition is characterized by several distinct features, including:
- Marked developmental delay: Individuals with this syndrome often experience significant delays in reaching developmental milestones, such as sitting, standing, and becoming mobile [1][2].
- Characteristic facies: People with chromosome 3q13.31 deletion syndrome typically have a short philtrum (upper lip) and protruding lips, which are distinctive facial features of the condition [3][4][5].
- Speech impairment: Some individuals may experience speech difficulties or delays in language development [1].
This rare chromosomal anomaly is often associated with other physical and developmental characteristics, including:
- Postnatal overgrowth: Individuals with chromosome 3q13.31 deletion syndrome may exhibit excessive growth after birth [2][8].
- Hypoplastic male genitals: Males with this condition may have underdeveloped genitalia [8].
It's essential to note that the symptoms and characteristics of chromosome 3q13.31 deletion syndrome can vary widely among affected individuals, and not everyone will exhibit all of these features.
References: [1] Context result 1 [2] Context result 5 [3] Context result 9 [4] Context result 6 [5] Context result 7
Additional Characteristics
- Speech impairment
- Marked developmental delay
- Characteristic facies
- Postnatal overgrowth
- Hypoplastic male genitals
Signs and Symptoms
Characteristics of Chromosome 3q13.31 Deletion Syndrome
Chromosome 3q13.31 deletion syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.
- Developmental Delay: Individuals with this condition often experience marked developmental delay, which can manifest as delayed speech, language, and cognitive development [1][2].
- Characteristic Facies: A distinctive facial appearance is common in people with chromosome 3q13.31 deletion syndrome, featuring a short philtrum (upper lip) and protruding lips [1][4][7].
- Ptosis: Ptosis, or drooping eyelids, is a frequent concern in children with this condition [2].
- Long or Short Sight: Long or short sight can also be present in individuals with chromosome 3q13.31 deletion syndrome [2].
- Abnormal Male Genitalia: Abnormal hypoplastic male genitalia are frequently present in males with this condition [3].
- Skeletal Abnormalities: Skeletal abnormalities, such as those affecting the bones of the hands and feet, can also be a feature of chromosome 3q13.31 deletion syndrome [3].
Additional Features
Postnatal overgrowth and dysmorphic features are also associated with chromosome 3q13.31 deletion syndrome [6][8]. The severity and presentation of these symptoms can vary widely among affected individuals.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8
Additional Symptoms
- Developmental Delay
- Skeletal Abnormalities
- Characteristic Facies
- Long or Short Sight
- Abnormal Male Genitalia
- ptosis
Diagnostic Tests
Diagnostic Tests for Chromosome 3q13.31 Deletion Syndrome
Chromosome 3q13.31 deletion syndrome is a rare chromosomal anomaly that can be diagnosed through various genetic tests.
- Microarray Test: A microarray test (arr) can detect the deletion of the long arm of chromosome 3, specifically in the 3q13.31 region [3]. This test can identify the characteristic karyotype of individuals with this syndrome, such as arr 3q13.12q13.33 x1dn [3].
- Clinical Genetic Test: A clinical genetic test offered by Intergen can diagnose chromosome 3q13.31 deletion syndrome, among other conditions [1]. This test can identify the specific chromosomal region involved in the deletion.
- Karyotype Analysis: Karyotype analysis can also be used to diagnose this syndrome, although it may not be as sensitive as microarray testing [4].
- Genetic Testing: Genetic testing is now considered a first-tier diagnostic test for chromosome 3q13.31 deletion syndrome [9].
References
[1] Intergen Clinical Genetic Test [3] Microarray Test (arr) [4] Karyotype Analysis [9] The emerging 3q13.31 microdeletion syndrome
Additional Diagnostic Tests
- Genetic Testing
- Clinical Genetic Test
- Karyotype Analysis
- Microarray Test
Treatment
Treatment Options for Chromosome 3q13.31 Deletion Syndrome
Chromosome 3q13.31 deletion syndrome is a rare genetic disorder that can cause various developmental and physical abnormalities. While there is no cure for this condition, treatment options are available to manage its symptoms.
- Seizure Control: Anticonvulsant medication may be prescribed to control seizures, which are a common symptom of chromosome 3q13.31 deletion syndrome [9].
- Vitamin Supplements: Vitamin supplements, particularly vitamin B6 and magnesium, may be recommended to help alleviate symptoms such as muscle weakness and fatigue [9].
- Behavioral Therapies: Behavioral therapies, including occupational therapy and speech therapy, can help individuals with chromosome 3q13.31 deletion syndrome develop essential skills and manage behavioral challenges [not explicitly mentioned in the context but a common treatment approach for similar conditions].
It's essential to consult with a healthcare professional for personalized medical advice and treatment. They will work with you to develop a comprehensive treatment plan tailored to your specific needs.
References: [9] - The treatment measures for Chromosome 3q13 Deletions and Microdeletions may involve: Seizure control using anticonvulsant medication, vitamin supplements, and ...
Recommended Medications
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Differential Diagnosis
Chromosome 3q13.31 Deletion Syndrome Differential Diagnosis
The differential diagnosis for chromosome 3q13.31 deletion syndrome involves considering other genetic conditions that may present with similar symptoms and characteristics.
- Autism Spectrum Disorder (ASD): Individuals with chromosome 3q13.31 deletion syndrome may also have ASD, which is characterized by impaired communication and social interaction [1].
- Tourette Syndrome: Some individuals with this condition may also experience symptoms of Tourette syndrome, such as vocal and motor tics [1].
- Schizophrenia: A study reported on an individual with schizophrenia who had a 3q13.31 microdeletion, highlighting the potential link between this genetic condition and psychiatric disorders [3].
- Developmental Delay and Postnatal Overgrowth: Individuals with chromosome 3q13.31 deletion syndrome may experience developmental delay and postnatal overgrowth, which can also be seen in other genetic conditions such as Beckwith-Wiedemann syndrome [4], [5].
- Dysmorphic Features: The presence of dysmorphic features, such as hypoplastic male genitals, can also be a characteristic of other genetic conditions like 3q13.31 deletion syndrome [4].
References:
[1] C Lowther · 2014 · Cited by 19 — We report on the extended adult phenotype associated with a 3q13.31 microdeletion in a 41-year-old male proband with schizophrenia and a nonverbal learning disorder.
[2] AM Molin · 2012 · Cited by 70 — A novel microdeletion syndrome at 3q13. 31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
[3] B Hervé · 2016 · Cited by 9 — A microdeletion at the 3q13.31 locus is associated with a new syndrome combining developmental delay, postnatal overgrowth and dysmorphic features.
[4] S Gimelli · 2013
Additional Differential Diagnoses
- Dysmorphic Features
- Tourette Syndrome
- Developmental Delay and Postnatal Overgrowth
- autism spectrum disorder
- schizophrenia
Additional Information
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- monosomy 3q13
- IAO_0000115
- A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
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- chromosome 3q13.31 deletion syndrome
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- http://purl.obolibrary.org/obo/DOID_0060388
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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.