Flashcards: Congenital disorders of nervous system

Hydranencephaly or hydrancephaly is a condition in which the brain's cerebral hemispheres are absent to varying degrees and the remaining cranial cavity is filled with cerebrospinal fluid.

Hydrocephalus is a condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) within the brain.

Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth defect involving the neural tube.

Chiari malformation, also known as Arnold–Chiari malformation, is a malformation of the skull.

Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci).

VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene.

Acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent.

Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations.

Spina bifida (Latin: "split spine") is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord.

Syringomyelia (/sᵻˌrɪŋɡəmaɪˈiːliə, -ɡoʊ-/) is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord.

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.

Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.

Cephalic disorders (from the Greek word κεφάλη, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.

Schizencephaly (from Greek skhizein, meaning "to split", and enkephalos, meaning "brain") is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater.

Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.

Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere.

Marcus Gunn phenomenon, also known as Marcus Gunn jaw-winking or trigemino-oculomotor synkinesis, is an autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid.

Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra.

Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions in which a person cannot feel (and has never felt) physical pain.

Porencephaly is an extremely rare cephalic disorder involving encephalomalacia.

Encephalocele, sometimes known as cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).

Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction.

Megalencephaly (or macrencephaly, abbreviated MEG) is a growth development disorder in which the brain is abnormally large.

Cerebellar hypoplasia is a heterogeneous group of disorder of cerebellar maldevelopment presenting as early onset non progressive ataxia, hypotonia, and motor learning disability.

The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, (2) there is a mass in the presacral space in front of the sacrum, and (3) there are malformations of the anus or rectum.

Neural tube defects (NTDs) are a group of conditions in which an opening in the spinal cord or brain remains from early in human development.

Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum.

Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri creating excessive folding of the brain leading to an abnormally thick cortex.

Iniencephaly, a term derived from the Greek word "inion" for nape of the neck, is a rare type of cephalic disorder that was first described by Étienne Geoffroy Saint-Hilaire in 1836.

Irregular sleep–wake rhythm is a rare form of circadian rhythm sleep disorder.

A central nervous system cyst is a cyst that primarily presents in the tissue of the central nervous system.