ORPHA:65683

Isolated focal cortical dysplasia

Synonyms: Epilepsy due to FCD

Type: Disease
Group: Disorder
Age of onset: All ages
Status: active

Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated focal cortical dysplasia	Epilepsy due to FCD
fr	Dysplasie corticale focale isolée	Epilepsie due à FCD
de	Kortikale Dysplasie, isolierte fokale	Epilepsie durch FCD
es	Displasia cortical focal aislada	Epilepsia causada por DCF
it	Displasia corticale focale isolata	Epilessia da FCD
nl	Geïsoleerde focale corticale dysplasie	Epilepsie door FCD
pt	Displasia cortical focal	Epilepsia por DCF
pl	Izolowana ogniskowa dysplazja korowa	Dysplazja korowa, typu Taylora · Padaczka spowodowana FCD
cs	Izolovaná fokální kortikální dysplázie	Epilepsie způsobená FCD
uk	Ізольована фокальна кортикальна дисплазія	Епілепсія внаслідок ФКУ
zh	孤立型局灶性皮质发育不良	FCD所致癫痫
tr	İzole fokal kortikal displazi	FCD'ye bağlı epilepsi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607341	BTNT		validated
ICD-10	Q04.8	NTBT	attributed	validated
ICD-11	LA05.51	NTBT	index	validated
MONDO	0019009	E		validated
UMLS	C4707795	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:268950Cerebral cortical dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET_24649472[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

21 annotations · validated 2021-01-21

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0012757	Abnormal neuron morphology
HP:0000707	Abnormality of the nervous system
HP:0410263	Brain imaging abnormality
HP:0002361	Psychomotor deterioration
HP:0001250	Seizure
Frequent (79-30%)
HP:0002536	Abnormal cortical gyration
HP:0000708	Atypical behavior
HP:0100543	Cognitive impairment
HP:0002384	Focal impaired awareness seizure
HP:0007359	Focal-onset seizure
HP:0001269	Hemiparesis
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0001256	Intellectual disability, mild
HP:0031951	Nocturnal seizures
HP:0006891	Thick cerebral cortex
Occasional (29-5%)
HP:0007334	Bilateral tonic-clonic seizure with focal onset
HP:0011097	Epileptic spasm
HP:0002197	Generalized-onset seizure
HP:0012469	Infantile spasms
HP:0010864	Intellectual disability, severe
HP:0025170	Neuronal/glioneuronal neoplasm of the central nervous system

Run the differential on the 5 obligate / very frequent terms

Annotation source: 15642904[PMID]_28025990[PMID]_27864929[PMID]_31835056[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/65683
This record as JSON: /data/d/65683.json