HIDEA syndrome
Synonyms: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HIDEA syndrome | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome |
| fr | Syndrome HIDEA | Syndrome de déficience intellectuelle sévère-hypotonie-strabisme-traits grossiers du visage-planovalgus |
| de | HIDEA-Syndrom | Schwere Intelligenzminderung-Hypotonie-Strabismus-grobe Gesichtsszüge-Planovalgus-Syndrom |
| es | Síndrome HIDEA | Síndrome de discapacidad intelectual grave-hipotonía-estrabismo-cara tosca-pies plano-valgos |
| it | Sindrome HIDEA | Sindrome disabilità cognitiva grave-ipotonia-strabismo-facies grossolana-piede piatto valgo · Sindrome disabilità intellettiva grave-ipotonia-strabismo-facies grossolana-piede piatto valgo |
| nl | HIDEA-syndroom | Ernstige intellectuele achterstand - hypotonie - strabisme - grof gelaat - planovalgus-syndroom |
| pt | Síndrome HIDEA | Síndrome de perturbação do desenvolvimento intelectual grave-hipotonia-estrabismo-face grosseira-planovalgo |
| pl | Zespół ciężkiej niepełnosprawności intelektualnej, hipotonii, zeza, grubych rysów twarzy i stóp płasko-koślawych | Zespół HIDEA |
| cs | Syndrom zahrnující těžkou mentální retardaci, hypotonii, strabismus, hrubé faciální rysy a pes planovalgus | = en |
| uk | Синдром HIDEA | Важка розумова відсталість-гіпотонія-косоокість-грубе обличчя-плантаргічний синдром |
| zh | 严重智力障碍-肌张力减退-斜视-粗糙面容-扁平卵巢综合征 | |
| tr | Ağır zihinsel yetersizlik-hipotoni-şaşılık-kaba yüz-planovalgus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618493 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018572 | E | validated | |
| UMLS | C5681179 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:656273OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| P4HTM | Disease-causing germline mutation(s) in | Assessed | HGNC:28858 | ENSG00000178467 | 614584 | 3p21.31 | prolyl 4-hydroxylase, transmembrane | 35908151[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 25078763[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25078763[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
11 annotations · validated 2016-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0000280 | Coarse facial features | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0002857 | Genu valgum | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000486 | Strabismus | |
| Very frequent (99-80%) | ||
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 25078763[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436141
- This record as JSON: /data/d/436141.json