|
|
|
|
||||
Holoprosencephaly
What are the symptoms?
In the most severe form, alobar HPE, those who survive have profound learning disabilities, but they usually acquire some basic developmental skills such as visual tracking, responding to sound, smiling, and evidence of memory. Most children with alobar HPE will have seizures requiring anticonvulsant medication. Muscle spasticity and periods of marked irritability are present to some degree in all, and various medications may be helpful. Episodes of irregular breathing and pulse rate and highly variable body temperature control can be particularly troublesome. Endocrine problems due to pituitary gland malfunction may require medication. Feeding is a major problem, and tube or gastrostomy feeding is often recommended. Constipation is a common problem but can be managed successfully.
In the less severe forms, semilobar and lobar HPE, there is more complete development of the brain into right and left hemispheres. In general, survival is longer than with the alobar type, with many affected children living into adulthood, although early death is also common. Some degree of learning disability is the rule and is often severe. These more severely affected children will have many of the same problems found with alobar HPE. With the mildest forms of lobar HPE, the child may have minimal disability and a normal lifespan.
Associated malformation of the face is often present, most commonly with the alobar type of HPE. Cyclopia, median cleft lip and/or single nostril are markers of the severe end of the spectrum. Absent sense of smell and single maxillary central incisor tooth may be the only facial features at the mild end of the spectrum.
Background
| Inheritance patterns and prenatal diagnosis 
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 