Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Synonyms: FHEIG syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | FHEIG syndrome |
| fr | Syndrome de dysmorphie faciale-hypertrichose-épilepsie-déficience intellectuelle/retard de développement-hypertrophie gingivale | Syndrome FHEIG |
| de | Gesichtsdysmorphie-Hypertrichose-Epilepsie-Intelligenzminderung/Entwicklungsverzögerung-Gingivahypertrophie-Syndrom | FHEIG-Syndrom |
| es | Síndrome de dismorfia facial-hipertricosis-epilepsia-discapacidad intelectual/retraso del desarrollo-hiperplasia gingival | Síndrome de FHEIG |
| it | Sindrome da dismorfismi facciali, ipertricosi, epilessia, disabilità intellettiva/ritardo dello sviluppo e ipertrofia delle gengive | Sindrome FHEIG |
| nl | Syndroom van faciale dysmorfie - hypertrichose - epilepsie - intellectuele achterstand/ontwikkelingsachterstand - overgroei van gingiva | FHEIG-syndroom |
| pt | Síndrome de dismorfia facial-hipertricose-epilepsia-perturbação do desenvolvimento intelectual/atraso do desenvolvimento-sobrecrescimento gengival | Síndrome FHEIG |
| pl | Zespół przerostu dziąseł, niepełnosprawności intelektualnej/opóźnienia rozwoju, padaczki, hipertrichozy i dysmorfii twarzy | Zespół FHEIG |
| cs | Syndrom zahrnující obličejový dysmorfismus, hypertrichózu, epilepsii, mentální retardaci/opoždění vývoje a přerůstání dásní | = en |
| uk | Синдром дисморфізму обличчя-гіпертрихозу-епілепсії-інтелектуальної недостатності/затримки розвитку-надмірного росту ясен | Синдром FHEIG |
| zh | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | = en |
| tr | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618381 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0032714 | E | validated | |
| UMLS | C5193066 | 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):
Parents in the classifications (5):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6279 | ENSG00000182450 | 605720 | 11q13.1 | potassium two pore domain channel subfamily K member 4 | 30290154[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30290154[PMID]_32981868[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30290154[PMID]_32981868[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/598603
- This record as JSON: /data/d/598603.json