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chromosome 16p12.1 deletion syndrome

ICD-10 Codes

Related ICD-10:

Description

Chromosome 16p12.1 Deletion Syndrome

Chromosome 16p12.1 deletion syndrome is a rare genetic condition caused by a small missing part of the short arm (p) of chromosome 16 at location 16p12.1 [7]. This deletion is associated with various developmental and physical abnormalities.

Characteristics:

  • Developmental Delay: Individuals with this condition often experience delayed development, including speech delay and intellectual disability [5].
  • Craniofacial Dysmorphology: People with chromosome 16p12.1 deletion syndrome may exhibit distinctive facial features and craniofacial dysmorphology [4].
  • Congenital Heart Defects: This condition is also associated with congenital heart defects, which can range from mild to severe [7].

Other Features:

  • Autism-like Features: Some individuals with chromosome 16p12.1 deletion syndrome may exhibit autism-like features, such as social and communication difficulties [5].
  • Sleep Disorders: People with this condition may experience sleep disorders, including insomnia and daytime fatigue [5].
  • Hypotonia: Muscle tone is often weak in individuals with chromosome 16p12.1 deletion syndrome [5].

Prevalence:

Chromosome 16p12.1 deletion syndrome is a rare genetic disorder, but its exact prevalence is unknown.

References: [4] - A condition caused by a 520 kb deletion at 16p12.1. [5] - Affected individuals may exhibit intellectual disability/developmental delay, speech delay, autism-like features, sleep disorders, hypotonia, craniofacial ... [7] - A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.

Additional Characteristics

  • Hypotonia
  • Congenital Heart Defects
  • Developmental Delay
  • Craniofacial Dysmorphology
  • Autism-like Features
  • Sleep Disorders

Signs and Symptoms

Chromosome 16p12.1 Deletion Syndrome: Signs and Symptoms

Chromosome 16p12.1 deletion syndrome is a rare genetic disorder caused by the deletion of a small region on the short arm (p) of chromosome 16 at position 12.1. The signs and symptoms of this condition can vary widely among affected individuals, but some common features include:

  • Developmental Delay: Many children with chromosome 16p12.1 deletion syndrome experience delays in reaching developmental milestones such as sitting, moving, speech, or growth [6].
  • Intellectual Disability: Individuals with this condition often have intellectual disability, which can range from mild to severe [2, 9].
  • Speech Delay: Speech development may be delayed or impaired in some cases [6].
  • Slow Growth: Some individuals may experience slow growth and weight gain [6].
  • Behavioral Issues: Behavioral issues such as autism, bipolar disorder, depression, and anxiety are common features of this condition [9].

In addition to these general symptoms, other findings can include:

  • Hearing Loss: Hearing loss is a possible feature of chromosome 16p12.1 deletion syndrome [1].
  • Cleft Lip/Palate: Cleft lip and/or palate may be present in some individuals [3, 4].
  • Dental Abnormalities: Dental abnormalities are another possible feature of this condition [3, 4].
  • Kidney Malformations: Kidney malformations can occur in males with chromosome 16p12.1 deletion syndrome [4].

It's essential to note that the phenotypes (physical and behavioral characteristics) of individuals with chromosome 16p12.1 deletion syndrome are highly variable, and not all affected individuals will exhibit all of these symptoms [7].

Additional Symptoms

  • Hearing Loss
  • Intellectual Disability
  • Developmental Delay
  • Behavioral Issues
  • Speech Delay
  • Slow Growth
  • Palate
  • Dental Abnormalities
  • Kidney Malformations

Diagnostic Tests

Diagnostic Tests for Chromosome 16p12.2 Microdeletion Syndrome

Chromosome 16p12.2 microdeletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 16. Diagnosing this condition requires specialized tests to detect the deletion.

  • Cytogenetics Tests: These tests examine

Additional Diagnostic Tests

  • Cytogenetics Tests
  • DNA Microarray Analysis
  • Whole Exome Sequencing

Treatment

Current Status of Drug Treatment for Chromosome 16p12.1 Deletion Syndrome

Unfortunately, there are no medicines specifically designed to treat chromosome 16p12.1 deletion syndrome (see [3]). Scientists and doctors have only just begun to study this condition, and as a result, there is limited research on potential treatments.

Research and Potential Therapies

However, researchers have identified several genes that may be involved in the development of this syndrome (see [7]). Further studies are needed to understand how these genes contribute to the symptoms of 16p12.1 deletion syndrome and to explore potential therapeutic targets.

General Treatment Approaches

While there is no specific treatment for chromosome 16p12.1 deletion syndrome, individuals with this condition may benefit from general medical care and support (see [8]). This can include management of developmental delays, craniofacial dysmorphology, and congenital heart defects through a multidisciplinary team of healthcare professionals.

Future Directions

As research continues to uncover the genetic mechanisms underlying chromosome 16p12.1 deletion syndrome, it is likely that new therapeutic approaches will emerge (see [9]). These may include targeted gene therapies or other innovative treatments designed to address specific symptoms associated with this condition.

References:

[3] Scientists and doctors have only just begun to study 16p12.2 deletion syndrome. At

Recommended Medications

  • No medicines specifically designed to treat chromosome 16p12.1 deletion syndrome
  • General medical care and support
  • Targeted gene therapies or other innovative treatments

💊 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 context provided, it seems that you're looking for information on the differential diagnosis of chromosome 16p12.2 microdeletion syndrome.

The differential diagnosis for 16p12.2 microdeletion is broad and includes many causes of developmental delays and/or behavior abnormalities. Some possible conditions to consider in the differential diagnosis are:

  • Other microdeletion syndromes, such as 22q11.2 deletion syndrome or 1p36 deletion syndrome
  • Genetic disorders that affect development, such as Down syndrome or Fragile X syndrome
  • Neurodevelopmental disorders, such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD)
  • Congenital anomalies or birth defects, such as cleft palate or heart defects
  • Metabolic disorders, such as phenylketonuria (PKU) or maple syrup urine disease

It's worth noting that the differential diagnosis for 16p12.2 microdeletion is not exhaustive and may vary depending on the individual case.

In terms of specific genes involved in the 16p12.1 deletion syndrome, research has shown that reduction of several 16p12.1 genes significantly disrupts craniofacial and cartilage formation, pharyngeal arch migration, as well as neural crest cell (NCC) development. This suggests that the genetic mechanisms underlying 16p12.2 microdeletion may be related to these developmental processes.

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Additional Information

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