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19p13.13 deletion syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

19p13.13 deletion syndrome

19p13.13 deletion syndrome is a rare chromosomal condition that leads to overgrowth, an unusually large head size, and developmental delays due to the loss of a small segment of chromosome 19.

Overview

19p13.13 deletion syndrome is a condition resulting from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13 (also referred to as p13.2 in some publications).

Symptoms & Features

The signs and symptoms of 19p13.13 deletion syndrome vary among affected individuals, partly because the size of the deletion and the number of affected genes differ from person to person. Common features include:

  • Physical growth and structure: An unusually large head size (macrocephaly) and tall stature. Mild differences in facial features may also be present.
  • Developmental delays: Significantly delayed development, particularly in speech. Children with this condition may speak few or no words.
  • Motor skill challenges: Weak muscle tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in both gross motor skills (such as sitting and walking) and fine motor skills (such as holding a pencil).
  • Neurological issues: Seizures and abnormalities of brain structure.
  • Gastrointestinal problems: Feeding and digestion issues, including constipation, diarrhea, vomiting, and abdominal pain.
  • Vision problems: Eye problems that can impair vision, such as eyes that do not point in the same direction (strabismus) and underdevelopment of the optic nerves (optic nerve atrophy), which carry visual information to the brain.

Frequency

This condition is very rare. Approximately 10 affected individuals have been described in the medical literature.

Causes

People with 19p13.13 deletion syndrome are missing between 300,000 DNA building blocks (300 kilobases or 300 kb) to more than 3 million DNA building blocks (3 megabases or 3 Mb) on the short arm of chromosome 19. This deletion affects one of the two copies of chromosome 19 in each cell and is thought to include at least 16 genes.

The loss of multiple genes in this region underlies the features of the condition. While researchers are still working to identify the roles of all the missing genes, certain genes have been linked to specific symptoms:

  • CACNA1A: Studies suggest that the deletion of this gene may cause seizures in affected individuals.
  • Other genes in the region: Genes such as CALR, BEST2, MAST1, and NFIX are also located in the affected region and may contribute to the syndrome's features.

Inheritance

19p13.13 deletion syndrome is typically not inherited. Instead, it results from a random deletion of a chromosomal segment during the formation of reproductive cells (eggs and sperm) or during early fetal development. Most affected individuals have no history of the disorder in their family.

Other Names for This Condition

  • 19p13.13 microdeletion
  • 19p13.13 microdeletion syndrome
  • Chromosome 19p13.13 deletion syndrome

Frequently Asked Questions

multidisciplinary approach is most beneficial. This includes physical therapy to improve muscle tone and coordination, occupational therapy for fine motor skills and daily activities, and intensive speech therapy to address significant language delays. Early intervention programs are crucial to support overall development.
Individuals with this syndrome often experience feeding and digestion issues such as constipation, diarrhea, vomiting, and abdominal pain. Management may involve dietary adjustments, medications to regulate bowel movements, or specialized feeding plans to ensure adequate nutrition and comfort.
Seizures are a potential neurological complication and are typically managed with anti-seizure medications. Brain abnormalities may be monitored through imaging studies like MRI. Regular neurological evaluations are important to assess for any changes in brain function or seizure activity and to adjust treatment as needed.
Parents might first notice an unusually large head size (macrocephaly) and tall stature compared to other children. Developmental delays are also common, particularly in speech, with children speaking few or no words. Weak muscle tone (hypotonia) and problems with coordination (ataxia) can lead to delays in reaching motor milestones like sitting and walking.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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