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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.
BDPM
Birth Defects Monitoring Program
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
Bell's palsy
A weakness or paralysis of the muscles that control expression on one side of the face because of damage to a facial nerve.
Crouzon syndrome
Many of the signs of Crouzon syndrome result from the early fusion of the skull bones during childhood. Abnormal growth of these bones leads to wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
brain tumor
An abnormal growth of tissue in the brain
Alzheimer's disease
Severe form of dementia caused by significant deterioration of brain tissue.
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