Understanding Acrania: Common Questions Answered

Acrania is a rare fetal condition characterized by a partial or complete absence of the calvarium (skull bone) with complete brain development (Amin et al., 2009). Due to the absence of part of the body, acrania deformity can be classified as a severe handicap or disability.

Acrania–exencephaly–anencephaly sequence has an incidence rate of 3.6–5.4 per 10,000 live births (Fleurke-Rozema et al., 2015).

As an illustration of fetal acrania, Amin et al. (2009) reported a case study where the fetal brain was well formed despite the absence of the calvarium. Brain convolutions, interhemispheric fissure and sulci were clearly identified. The brain was covered by a thin membranous structure. Color Doppler scans showed normal vascular pattern on the fetal brain. The fetus showed normal cardiac activity (137 beats/min) with normal rhythm. The movements of the fetal body parts were normal and well coordinated. Except the partial absence of the calvarium, no other fetal abnormallity was seen.

Amin M, Mahmood R, Nafees M, Shakoor T. Fetal Acrania – Prenatal Sonographic Diagnosis and Imaging Features of Aborted Fetal Brain. J Radiol Case Rep. 2009; 3(7): 27–34.

J.H. Fleurke-Rozema, L. van Leijden, K. van de Kamp, E. Pajkrt, C.M. Bilardo, R.J. Snijders. Timing of detection of anencephaly in The Netherlands. PrenatDiagn35 (2015), pp. 483-485

The parents of babies with acrania, anencephaly, spina bifida or other neural tube defects often face questions about the causes. What are the reasons for acrania? Why does this happen to my child? Is acrania my fault?

According to Kaya et al. (2004), lack of mesenchymal migration in the fourth week of embryological age is a proposed mechanism for neural tube defects. Moreover, according to Lanska (2010) and Czeizel (1995), the relationship of folate deficiency with neural tube defects was established. It was determined that folate was essential for the transferof a carbon unit for the transformation of homocysteineto methionine, DNA methylation and others.

It is not the parents fault that their child has acrania.

Kaya H, Sezik M, Özkaya O, Aydin AR. Fetal acrania at term Perinatal Journal. 2004;12(2):96–98.

Lanska DJ. Historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins. Handb. Clin. Neurol. ;2010. 95: 445– 476.

Czeizel AE. Nutritional supplementation and prevention of congenital abnormalities. Curr Opin: Obstet Gynecol; 1995.7: 88–94.

Acrania–exencephaly–anencephaly sequence has an incidence rate of 3.6–5.4 per 10,000 live births (Fleurke-Rozema et al., 2015).

J.H. Fleurke-Rozema, L. van Leijden, K. van de Kamp, E. Pajkrt, C.M. Bilardo, R.J. Snijders. Timing of detection of anencephaly in The Netherlands. PrenatDiagn35 (2015), pp. 483-485

According to Bartoš and Káčeríková and the scientific papers cited in their publication, there is no clear evidence for a specific genetic contribution or increased risk of recurrence in future pregnancies for isolated acrania.

This means you can have a healthy baby after a case of acrania.

Vladimír Bartoš, Oľga Káčeríková. Fetal Acrania: A Case Report. ACTA FACULTATIS MEDICAE NAISSENSIS. DOI: 10.5937/afmnai40-36356.

Bianca S, Ingegnosi C, Auditore S , et al. Prenatal and postnatal findings of acrania. Arch Gynecol Obstet 2005;271(3):256-8.

Li L, Cerda S, Kindelberger D, et al. Isolated acrania in the presence of amnionic band syndrome. A J Med Sci 2017;10(3):100-2.

Acrania can be detected through first semester ultrasound, usually from 11 weeks of gestation onward (Amin et al.).

However, the authors also emphasize that the fetal cranium is not fully calcified before 10–11 weeks; therefore, a first-trimester diagnosis must be made with caution to avoid potential misdiagnosis. Furthermore, Abid et al. (2022) show that although early diagnosis is possible (it has been described at 9-10 weeks of gestation), it is true that detection before 14 weeks is difficult.

Amin M, Mahmood R, Nafees M, Shakoor T. Fetal Acrania – Prenatal Sonographic Diagnosis and Imaging Features of Aborted Fetal Brain. J Radiol Case Rep. 2009; 3(7): 27–34.

S. Abid, B. Mohamed Raouf, A. Sghaier,G.G.Ben Dhaou,A.Ben Smida. Antenatal diagnosis of multiple pterygium. Ultrasound in Obstetrics & Gynecology. Volume 60: Abstracts of the 32nd World Congress on Ultrasound in Obstetrics and Gynecology, 16–18 September 2022, London, UK & Virtual.

Babies with acrania – anecephaly have a brain. Furthermore, their brains develop. What is missing is part of the skull bone.

According to (Amin et al., 2009), ultrasound can reveal that the fetal brain is well formed despite the partial absence of the calvarium (skull bones). Brain convolutions, interhemispheric fissure and sulci are clearly identified. The brain is covered by a thin membranous structure. Color Doppler scans showed normal vascular pattern on the tetal brain.

The fetus showed normal cardiac activity with normal rhythm. The movements of the fetal body parts were normal and well coordinated.

Munihire et al.reported the case study of a baby with acrania delivered at term who could nibble the breasts normally.

In short, despite the handicap, a baby with acrania has a brain that develops.

Amin M, Mahmood R, Nafees M, Shakoor T. Fetal Acrania – Prenatal Sonographic Diagnosis and Imaging Features of Aborted Fetal Brain. J Radiol Case Rep. 2009; 3(7): 27–34.

Munihire JB, Sipezwe BN, Muhumuza J, Kiyaka S, Kakuru GS, Buholo GB. Acrania-exencephalie in a live newborn delivered at term: A case report. Journal of Pediatric Surgery Case Reports, Volume 89, February 2023

Babies with acrania, exencephaly, anencephaly are not considered brain death. Despite the handicap, a baby with acrania, exencephaly, anencephaly has a brain that develops.

Despite the absence of skull bones, according to (Amin et al., 2009), ultrasound can reveal that the fetal brain is well formed. Brain convolutions, interhemispheric fissure and sulci are clearly identified. The brain is covered by a thin membranous structure. Color Doppler scans show normal vascular pattern on the tetal brain. The fetus shows normal cardiac activity with normal rhythm.

The movements of the fetal body parts are normal and well coordinated. In addition, Munihire et al. reported the case study of a baby with acrania delivered at term who could nibble the breasts normally.

Munihire JB, Sipezwe BN, Muhumuza J, Kiyaka S, Kakuru GS, Buholo GB. Acrania-exencephalie in a live newborn delivered at term: A case report. Journal of Pediatric Surgery Case Reports, Volume 89, February 2023

This is not a correct description of the fetus’s condition. It might happen that the fetus is diagnosed with acrania which means a partial absence of the skull. The baby has a brain that develops.

Although the fetal brain is well formed and develops, the absence of the skull might lead to the brain taking unregular shape where the skull is missing. This condition is called anencephaly.

Amin M, Mahmood R, Nafees M, Shakoor T. Fetal Acrania – Prenatal Sonographic Diagnosis and Imaging Features of Aborted Fetal Brain. J Radiol Case Rep. 2009; 3(7): 27–34.

By no means babies with acrania – anencephay are considered dead. They are alive. They have brains that develop.

Unfortunately, due to the missing part of the skull bone, the brain might take an irregular shape.

Babies with acrania – anencephaly are best protected in their mothers’ wombs. Like other babies, as long as they are nurtured by their mothers, they are safe.

There is neither scientific evidence nor record showing that these babies suffer during the pregnancy.

The answer is “Yes”. A baby with acrania – anencephaly can survive.

A recent story is about Jaxon Buell (USA), a child born with 80% of his brain missing due to anencephaly. Although he was diagnosed to be incompatible with life and would die at birth or in the following minutes or hours, his parents decided to carry him to term.

Jaxon not only survived the labour and the following hours but also made it through his fifth anniversary. He truly defied all state-of-the-art understanding on the condition. You can read more details in this article. We have compiled the remarkable journey of this extraordinary family in a blog post.

“Miracle boy” Noah Wall from Cumbria (UK) has defied the odds reaching his 9th birthday in 2022, despite being born with spina bifida and only 2% of his brain function. Hi brain is now almost fully functional. He plays piano and perfomed at Royal Albert Hall.

Yes. A baby born with acrania – anencephaly can cry not only at birth but also in their daily life. The child is not only a living organism but also living human being who can think, speak and know.

“Miracle boy” Noah Wall from Cumbria (UK) has defied the odds reaching his 9th birthday, despite being born with only 2% of his brain function.

Noah’s parents Shelly and Rob were advised to abort him on multiple occasions when scans revealed he had spina bifida and Hydrocephalus. But they were determined to have him.

Doctors then told them he wouldn’t live long, that with less than 2% brain function he couldn’t survive. But he has continued to defy the doctor’s expectations and his brain is now almost fully functioning. For his birthday Noah had an astronaut themed day, with rockets and science experiments as well as the usual candles and cake.

Noah Wall plays piano and performed at Royal Albert Hall. You can listen to his mother’s story here.

Jaxon Buell (Florida, USA), nicknamed “Jaxon Strong” is a child born with 80% of his brain missing due to anencephaly. His condition was diagnosed during an ultrasound at week 17. Although the doctors had predicted that he would die at birth, Jaxon survived. He let out a cry when he was delivered at 37 weeks.

The family was told Jaxon would not make it to his first birthday, but he passed that milestone and beyond. He passed away after making it through his fifth birthday.

Jaxon’s father described him after his first birthday: “He is talking up a storm these days, truly teaching himself how to communicate with us in his own way … He is so normal in so many ways. He is a baby who is dealing with teething, he cries when he’s hungry, he hurts from gas pains, he throws ups, he cries, he poops, he sleeps, he repeats.”

One of many articles about Jaxon is here.

Contrary to the severity of the handicap, it is important to note that the child does not experience any suffering from acrania anencephaly. In fact, the mother’s womb provides the child with the best possible protection.

To address this concern, we have published an informative article detailing the insights we gained from an expert pediatric neurologist.