anencephaly 1

Anencephaly 1 is a severe neural tube defect characterized by the absence or severe reduction of the cranial vault and brain tissue. This condition is linked to variants in the TRIM36 gene and is inherited in an autosomal recessive manner. Most cases are identified prenatally, and the condition is associated with profound anatomical malformations that are typically incompatible with long-term survival. It is rare, affecting approximately 1 to 9 per million individuals.

Clinically, anencephaly 1 presents with the total or partial absence of the skull and brain, a hallmark feature of this condition. In addition, spina bifida is invariably present, contributing to the overall spectrum of neural tube defects. These characteristic findings are often detected during prenatal imaging and may alert clinicians to the severity of the malformation. Not all aspects of the presentation are uniform in severity, and variation in anatomical findings can occur, although the core features remain consistent.

Variants in the TRIM36 gene have been implicated in anencephaly 1, with disruption of the gene affecting normal embryonic neural tube development. This condition is inherited in an autosomal recessive pattern, meaning that each affected individual inherits one altered copy of TRIM36 from both parents. It is more common when parents share a common ancestor, as the likelihood of both parents carrying the same rare mutation increases. Genetic counseling is recommended for families to better understand these risks and implications for future pregnancies.

Currently, management of anencephaly 1 focuses on supportive care and symptom management, as no specific foundational or targeted therapies exist for this condition. Treatment is individualized and typically involves a multidisciplinary team approach aimed at providing comfort and palliative support. Genetic counseling is also recommended to help families understand recurrence risks and to explore options for future family planning. Patients should discuss available management strategies with their healthcare team to determine the best approach based on their unique situation.

Anencephaly 1 is associated with an extremely severe prognosis. Most affected pregnancies result in stillbirth, and infants who are born alive typically survive only a few hours or days. Outcomes vary, and while the condition is invariably devastating, the descriptions in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors who can provide guidance and support in navigating this challenging diagnosis.

Clinical trials are underway exploring new treatment approaches for neural tube defects such as anencephaly 1. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.