Paula and Bobby
Parents of Lillie
What is Acalvaria?
Acalvaria is a rare disease. It is also known as Acrania.
Acalvaria is a rare congenital anomaly manifesting with complete absence of the calvarial bones. The brain is frequently abnormal. The condition is increasingly being diagnosed by fetal ultrasound and may be misinterpreted as an encephalocele. Brain abnormalities include hydrocephalus, holoprosencephaly, and absent pituitary gland. Cerebellar hypoplasia may also be present. Other reported abnormalities have included cleft lip and palate, congenital heart defects, omphalocele, and spina bifida. Harris et al., (1993) reported two cases and provided a good review. Bronshtein and Ornoy (1991) reported affected sibs. and the parents of the case reported by Gupta and Kumar (2012) were consanguineous.
Sperber et al., (1986) reported an 85-day-old fetus with holoprosencephaly, absent calvaria, hypertelorism, proptosis, oblique facial clefts, bilateral cleft lip and cleft palate. It was postulated that the defects arose from faulty embryogenesis of the prechordal cephalic mesenchyme, leading to failure of telencephalic cleavage and of neural crest-mediated development of the calvaria and facial prominences.
* This information is courtesy of the L M D.
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What gene changes cause Acalvaria?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acalvaria?
The typical symptoms of the syndrome are:
How does someone get tested for Acalvaria?
The initial testing for Acalvaria can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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