Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
historical
Synonyms: Jagell-Holmgren-Hofer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | Jagell-Holmgren-Hofer syndrome |
| fr | Syndrome d'ichtyose-alopécie-éclabion-ectropion-déficience intellectuelle | Syndrome de Jagel-Holmgren-Hofer |
| de | Ichthyose-Alopezie-Eklabium-Ektropion-Intelligenzminderung-Syndrom | Jagell-Holmgren-Hofer-Syndrom |
| es | Síndrome de ictiosis-alopecia-eclabión-ectropión-discapacidad intelectual | Síndrome de Jagell-Holmgren-Hofer |
| it | Sindrome ittiosi-alopecia-eclabion-ectropion-disabilità intellettiva | Sindrome di Jagel-Holmgren-Hofer |
| nl | Ichthyosis - alopecie - eclabium - ectropion - intellectuele achterstand-syndroom | Syndroom van Jagell-Holmgren-Hofer |
| pt | Síndrome de ictiose-alopecia-eclábio-ectropion-perturbação do desenvolvimento intelectual | Síndrome Jagell-Holmgren-Hofer |
| pl | Rybia łuska - łysienie - wywinięcie warg i powiek - niepełnosprawność intelektualna | Zespół Jagella, Holmgrena i Hofera |
| cs | Syndrom zahrnující ichtyózu, alopecii, eklabium, ektropium a mentální retardaci | Jagellův-Holmgrenův-Hoferův syndrom · Jagell-Holmgren-Hoferův syndrom |
| uk | Синдром іхтіозу-алопеції-еклабіону-ектропіону-інтелектуальної недостатності | Синдром Ягеля-Хольмгрена-Хофера |
| zh | 鱼鳞病-脱发-唇外翻-眼睑外翻-智力障碍综合征 | Jagell-Holmgren-Hofer综合征 |
| tr | İktiyoz-alopesi-eklabiyon-ektropiyon-zihinsel yetersizlik sendromu | Jagell-Holmgren-Hofer sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242510 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009444 | E | validated | |
| MeSH | C537364 | E | validated | |
| UMLS | C1855788 | E | validated | |
| GARD | 292 | 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:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3829441[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3829441[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
26 annotations · validated 2019-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002221 | Absent axillary hair | |
| HP:0002555 | Absent pubic hair | |
| HP:0002293 | Alopecia of scalp | |
| HP:0005597 | Congenital alopecia totalis | |
| HP:0007503 | Generalized ichthyosis | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000973 | Cutis laxa | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000958 | Dry skin | |
| HP:0012472 | Eclabion | |
| HP:0000656 | Ectropion | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0005595 | Generalized hyperkeratosis | |
| HP:0001263 | Global developmental delay | |
| HP:0040189 | Scaling skin | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0045075 | Sparse eyebrow | |
| Excluded (0%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0000135 | Hypogonadism | |
| HP:0010550 | Paraplegia | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0030182 | Tetraplegia/tetraparesis | |
Annotation source: 3829441[PMID]_28976107[PMID]_27377997[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2269
- This record as JSON: /data/d/2269.json