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Polymicrogyria, bilateral frontoparietal(BFPP)

MedGen UID:
376107
Concept ID:
C1847352
Disease or Syndrome
Synonyms: BFPP; CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT; Polymicrogyria
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ADGRG1 (16q21)
OMIM®: 606854
Orphanet: ORPHA101070

Definition

Polymicrogyria is characterized by stable neurologic deficits, i.e., a "static encephalopathy." The mildest form, unilateral focal polymicrogyria, may have minimal neurologic manifestations. In more severe forms, focal, motor, sensory, visual, or cognitive problems may be present, depending on the brain region affected. In the most widespread form, bilateral generalized polymicrogyria, severe intellectual disability, cerebral palsy, and refractory epilepsy may be present. [from GTR]

Additional descriptions

From GeneReviews
Polymicrogyria is characterized by stable neurologic deficits, i.e., a "static encephalopathy." The mildest form, unilateral focal polymicrogyria, may have minimal neurologic manifestations. In more severe forms, focal, motor, sensory, visual, or cognitive problems may be present, depending on the brain region affected. In the most widespread form, bilateral generalized polymicrogyria, severe intellectual disability, cerebral palsy, and refractory epilepsy may be present.  https://www.ncbi.nlm.nih.gov/books/NBK1329
From GHR
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected.Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition.Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication.Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.  https://ghr.nlm.nih.gov/condition/polymicrogyria

Clinical features

Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked. It is a normal reflex up to the age of two. Its presence beyond that age indicates neurological damage.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Congenital cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Polymicrogyria, anterior to posterior gradient
MedGen UID:
335671
Concept ID:
C1847356
Finding
Cerebral dysmyelination
MedGen UID:
343222
Concept ID:
C1854885
Finding
Defective structure and function of myelin sheaths of the white matter of the brain.
Cognitive delay
MedGen UID:
351243
Concept ID:
C1864897
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Frontoparietal polymicrogyria
MedGen UID:
481304
Concept ID:
C3279674
Finding
An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolymicrogyria, bilateral frontoparietal
Follow this link to review classifications for Polymicrogyria, bilateral frontoparietal in Orphanet.

Recent clinical studies

Diagnosis

Desai NA, Udani V
J Child Neurol 2015 Nov;30(13):1819-23. Epub 2015 Apr 28 doi: 10.1177/0883073815583335. PMID: 25922261
Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M
Neuropediatrics 2015 Apr;46(2):134-8. Epub 2015 Feb 2 doi: 10.1055/s-0034-1399754. PMID: 25642806
Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S
Indian J Pediatr 2015 Apr;82(4):390-1. Epub 2014 Nov 23 doi: 10.1007/s12098-014-1614-1. PMID: 25416088

Therapy

Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S
Indian J Pediatr 2015 Apr;82(4):390-1. Epub 2014 Nov 23 doi: 10.1007/s12098-014-1614-1. PMID: 25416088

Clinical prediction guides

Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M
Brain Dev 2014 Jun;36(6):528-31. Epub 2013 Aug 24 doi: 10.1016/j.braindev.2013.07.015. PMID: 23981349
Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E
FEBS J 2013 Dec;280(23):6097-113. Epub 2013 Oct 8 doi: 10.1111/febs.12529. PMID: 24102982Free PMC Article

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