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Bohring-Opitz syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Bohring-Opitz syndrome

Bohring-Opitz syndrome is a rare genetic condition characterized by profound intellectual disability, developmental delays, distinctive facial features, and a characteristic body posture, often leading to severe health complications and a shortened lifespan.

Overview

Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. Most affected individuals have a normal head shape and size with no brain abnormalities; however, some have abnormal development of the head. Abnormal development can lead to a small head size (microcephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. Structural brain abnormalities can occur with or without head abnormalities. For example, the fluid-filled spaces near the center of the brain (ventricles) may be usually large (ventriculomegaly) or the tissue that connects the left and right halves of the brain (the corpus callosum) can be abnormally thin.

Eye problems that can affect vision also occur in people with Bohring-Opitz syndrome. People with this disorder may have protruding eyes (exophthalmos), eyes that do not point in the same direction (strabismus), widely spaced eyes (hypertelorism), or outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may have severe nearsightedness (myopia) or abnormalities in the light-sensitive tissue at the back of the eye (retina) or the nerves that carry information from the eyes to the brain (optic nerves).

Additional facial differences associated with Bohring-Opitz syndrome can include a flat nasal bridge, nostrils that open to the front rather than downward (anteverted nostrils), a high arch or opening in the roof of the mouth (high arch or cleft palate), a split in the upper lip (cleft lip), a small lower jaw (micrognathia), low-set ears that are rotated backward, a red birthmark (nevus simplex) on the face (usually the forehead), a low frontal hairline often with eyebrows that grow together in the middle (synophrys), and excessive body and facial hair (hirsutism) that increases with age.

Some individuals with Bohring-Opitz syndrome have poor growth before birth (intrauterine growth retardation). During infancy, they grow and gain weight slowly and often have severe feeding difficulties with recurrent vomiting.

People with this condition often have characteristic body positioning, known as Bohring-Opitz syndrome posture. This posture consists of slouching shoulders, bent elbows and wrists, hands positioned with the wrists or all of the fingers angled outward toward the fifth finger (ulnar deviation), with the legs usually extended straight. Affected individuals usually stop exhibiting the Bohring-Opitz syndrome posture as they get older. Other abnormalities include joint deformities (called contractures) that are apparent at birth in the knees, hips, or other joints and abnormal muscle tone. Affected individuals can have recurrent infections and heart, kidney, or genital abnormalities. In rare cases, a childhood form of kidney cancer known as Wilms tumor can develop.

Some individuals with Bohring-Opitz syndrome do not survive past early childhood, while others live into adolescence or early adulthood. The most common causes of death are heart problems, abnormalities of the throat and airways that cause pauses in breathing (obstructive apnea), and lung infections.

Frequency

Bohring-Opitz syndrome is thought to be a rare condition, although its exact prevalence is unknown. More than 40 affected individuals have been described in the scientific literature.

Causes & Risk Factors

Bohring-Opitz syndrome is caused by mutations in the ASXL1 gene. This gene provides instructions for making a protein that is involved in a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Through its role in chromatin remodeling, the ASXL1 gene regulates the activity (expression) of many genes, including a group of genes known as HOX genes, which play important roles in development before birth. The ASXL1 protein can turn on (activate) or turn off (repress) HOX genes depending on when they are needed.

ASXL1 gene mutations reduce the amount of functional ASXL1 protein available, which likely disrupts the regulation of the activity of HOX genes and other genes during development. Altered activity of these genes probably leads to the neurological and physical features of this condition.

Inheritance

Bohring-Opitz syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Most cases of the condition result from new (de novo mutations) in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. No one with Bohring-Opitz syndrome has been known to have children.

Very rarely, individuals with Bohring-Opitz syndrome inherit the altered gene from their unaffected mother, who has the mutation only in some cells, including egg cells, but not in others. This phenomenon is known as mosaicism.

Other Names

  • Bohring syndrome
  • BOPS
  • BOS
  • C-like syndrome
  • Oberklaid-Danks syndrome
  • Opitz trigonocephaly-like syndrome

Frequently Asked Questions

Individuals with Bohring-Opitz syndrome face severe challenges including profound intellectual disability, intractable seizures, and significant feeding difficulties often requiring tube feeding. Respiratory problems, including recurrent infections and central apnea, are common and contribute to a shortened lifespan. Eye abnormalities can impair vision and require ophthalmological care. Management focuses on supportive and palliative care, including anti-seizure medications, nutritional support, respiratory management, and therapies to maximize comfort and quality of life.
Diagnosis of Bohring-Opitz syndrome is typically made through genetic testing, often whole exome sequencing, which identifies mutations in specific genes (most commonly ASXL1). If a child is diagnosed, genetic counseling is highly recommended for the parents. Bohring-Opitz syndrome is usually caused by a de novo (new) mutation, meaning it is not inherited from the parents, making the recurrence risk for future pregnancies very low. However, parental mosaicism is a rare possibility, which would slightly increase recurrence risk.
Bohring-Opitz syndrome is a severe condition associated with a significantly shortened lifespan. Many affected individuals do not survive beyond early childhood due to severe health complications, particularly respiratory issues, feeding difficulties, and intractable seizures. Survival into adolescence or adulthood is rare, and those who do survive typically require extensive medical care and support due to profound intellectual and developmental disabilities.
Infants with Bohring-Opitz syndrome often present with profound to severe intellectual disability and significant developmental delays from birth. Distinctive physical features include a characteristic body posture (often with flexed elbows and wrists), prominent eyes (exophthalmos), widely spaced eyes (hypertelorism), and a flat nasal bridge. Seizures are also common early in life, and some infants may have a small head size (microcephaly) or a pointed forehead (trigonocephaly).
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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