Is macrocephaly a genetic disorder?

Is macrocephaly a genetic disorder?

Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders.

When is macrocephaly diagnosed?

The simple definition of the word macrocephaly is “large head.” Doctors apply that diagnosis when a baby’s head size is in the 98th percentile. This means that the baby’s head is bigger than 98% percent of other babies of the same age.

What is benign macrocephaly?

1. Benign macrocephaly–also known as macrocrania or megacephaly–is hereditary and most likely autosomal dominant. 2. The condition of external hydrocephalus and macrocephaly usually stabilizes in the second to third year of life; the head circumference is generally around the 98th percentile by age 3 years.

What is congenital macrocephaly?

Macrocephaly is the condition in which the head circumference of an infant is above 2 standard deviations, which is above the 97th percentile. It can be due to benign conditions or can be due to underlying causes that lead to serious sequelae like neurological deficits and developmental delays.

What is benign familial macrocephaly?

Benign familial macrocephaly is an inherited condition. It happens in families predisposed to having larger heads. Sometimes there is a problem with the brain, such as hydrocephalus or excess fluid. Underlying conditions will require treatment.

What causes macrocephaly in babies?

Causes of macrocephaly include: Benign familial macrocephaly – other family members with big heads (inherited) Excess fluid in the brain – benign extra-axial fluid of infancy or hydrocephalus.

Is macrocephaly the same as hydrocephalus?

In fact, macrocephaly is external hydrocephalus caused by benign subdurals of infancy. Unlike forms of hydrocephalus caused by increased CSF in the ventricles, the external form involves fluid outside the brain, usually does not require any treatment and typically resolves itself over time.

What are the possible complications of benign macrocephaly?

Benign familial macrocephaly is not associated with any complications.  However, macrocephaly due to hydrocephalus can have serious complications, including death, if not promptly treated. Other complications associated with macrocephaly are seizures, developmental disabilities, and neurologic deficits.

Where can I find information about macrocephaly (benign familial)?

OMIM is maintained by Johns Hopkins University School of Medicine. PubMed is a searchable database of medical literature and lists journal articles that discuss Macrocephaly, benign familial. Click on the link to view a sample search on this topic.

What are the symptoms of benign macrocephaly in children?

Some children will have benign macrocephaly. And they won’t experience symptoms other than having a larger head circumference. In other cases, children may experience developmental delays, like reaching learning milestones. Other symptoms include:

What is megalencephaly and macrocephaly?

The term megalencephaly describes a brain that is large. Macrocephaly may be due to megalencephaly (true enlargement of brain parenchyma) or many other conditions that cause an enlarged head. 27 Usually obvious conditions that can cause head enlargement, such as hydrocephaly and brain tumors, are not included.

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