What are the symptoms of holoprosencephaly malformation complex?

General: Children diagnosed with holoprosencephaly (HPE) may have a small head (called microcephaly), excessive fluid in the brain (hydrocephalus), variable degrees of intellectual disabilities (formerly called mental retardation), epilepsy (brain disorder that causes frequent seizures), craniofacial malformations, increased muscle tone that results in a tightening and shortening of muscles (called spasticity), sleeping disorders, hormonal disorders, or abnormalities of other organ systems, such as the heart, bones, genitourinary, and digestive systems.

Facial malformations: Facial malformations, which range from mild to severe, are common among patients with HPE. The least severe malformations are typically seen in patients with lobar HPE, while alobar HPE is usually associated with the most severe abnormalities.

Sleep disorders: Multiple studies have found that people with HPE often have sleep disorders, especially sleep apnea. Sleep apnea is a serious condition that occurs when a person stops breathing for short periods of time during sleep. Patients with HPE have an increased risk of experiencing obstructive sleep apnea because of their facial malformations. Since sleep apnea causes individuals to wake up frequently throughout the night, patients are often drowsy during the day. Other patients may have difficulty falling asleep.

Intellectual disabilities: Most people born with HPE have intellectual disabilities (formerly called mental retardation), which range from mild to severe. Some people with lobar HPE, the mildest classic form of the disorder, have normal or near normal brain function.

Gastrointestinal problems: People born with HPE typically have digestive problems, such as gastroesophageal reflux disease (GERD). This condition occurs when liquid from the stomach backs up (regurgitates) into the esophagus. This liquid may contain stomach acids and bile. In some cases, the regurgitated stomach liquid can cause inflammation (esophagitis), irritation, and damage to the esophagus. GERD is common among HPE patients because they often have weak esophageal muscles.

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