eRAM

CBPS is characterized by partial paralysis of the muscles on both sides of the face (facial diplegia), seizures, and intellectual disability.In those with CBPS, impairment of certain nerves (cranial nerves) that emerge from the brain may result in sudden, involuntary spasms of facial muscles as well as partial paralysis of both sides (diplegia) of the face, jaws, tongue, and throat (pharynx). Impaired control of these muscles may cause difficulty chewing (mastication), swallowing (dysphagia), and/or pronouncing certain sounds and words (dysarthria). In some cases, affected individuals may be unable to speak.Most individuals with CBPS also experience seizures or sudden recurrent episodes in which uncontrolled electrical discharges from nerve cells (neurons) of the outer region of the brain (cerebral cortex) cause involuntary muscle contractions, sensory disturbances, loss of consciousness, and/or other associated findings (epilepsy). Several different types of seizures may occur in the same affected individual. However, reports indicate that the epileptic seizures are frequently generalized. (Epileptic seizures may be broadly categorized into generalized and focal-onset seizures. Generalized seizures appear to arise over a wide area or both sides or hemispheres of the cerebral cortex, while focal seizures have an onset limited to a part of one hemisphere.).In some cases, generalized seizures may be characterized by sudden breaks or momentary lapses of awareness or action; fluttering of the eyelids; twitching of facial muscles; and/or other findings (absence or petit mal seizures). In those with CBPS, the beginning and end of such seizure episodes may not be as distinct as often seen in absence seizures or they may be associated with loss of muscle tone or other atypical findings (i.e., atypical absence or petit mal seizures). Additional types of generalized seizures occur in some cases. Some affected individuals may have seizure episodes characterized by sustained muscle contraction or muscle jerks followed by sudden loss of muscle tone (atonic [astatic] seizures), potentially causing falls. In addition, some may have seizures characterized by an abrupt loss of consciousness, generalized stiffening of muscles, rhythmic contraction and relaxation of all muscle groups, and other findings (tonic-clonic or grand-mal seizures). In some cases, affected infants may first experience seizures characterized by sudden, brief, involuntary contractions of the neck, trunk, arms, and legs (infantile spasms). (For more information on these seizure types, use Epilepsy as your search terms in the Rare Disease Database.).Children with CBPS may also have delays in the development of certain physical, mental, and behavioral skills that are typically acquired at particular stages (developmental milestones), such as language and speech development and certain motor abilities. In addition, mild to severe intellectual disability is usually present. - NORD
Reference: NORD

bppx
cbps
congenital bilateral perisylvian syndrome (disorder)
perisylvian syndrome
perisylvian syndrome, congenital bilateral
pmgx
polymicrogyria, bilateral perisylvian
polymicrogyria, bilateral perisylvian, x-linked

C1845668

C0040188  |  tic disorders  |  1

27286  |  SRPX2  |  CTD_human

HP:0000750  |  Late-onset speech development
HP:0007270  |  Atypical absence seizures
HP:0007024  |  Pseudobulbar palsy
HP:0100543  |  Cognitive deficits
HP:0002126  |  Polymicrogyria
HP:0010522  |  Dyslexia
HP:0002069  |  Generalized tonic clonic seizures

HP:0100033  |  Tic disorder  |  1
HP:0001250  |  Seizures  |  1