|
Apert syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet.
Non-system-specific Birth Defect
Amniotic band sequence
cerebellum
The portion of the brain mainly responsible for balance and coordination.
Jackson-Weiss syndrome
Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.
enkephalins
(en-KEF-uh-lins). Naturally occurring molecules in the brain. Enkephalins attach to special receptors in the brain and spinal cord to inhibit pain messages. They also affect other functions within the brain and nervous system.
hematoma
A collection of blood within the brain or on its surface that can cause increased pressure, which can damage brain cells and interrupt blood flow.
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
NBDPN
National Birth Defects Prevention Network
Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation
Muenke syndrome
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.
|
Did You Know?