Ichthyosis-prematurity syndrome
Synonyms: Congenital ichthyosis type 4 · IPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-prematurity syndrome | Congenital ichthyosis type 4 · IPS |
| fr | Syndrome d'ichtyose-prématurité | IPS · Ichtyose congénitale type 4 |
| de | Ichthyose-Frühgeburt-Syndrom | IPS · Ichthyose, kongenitale, Typ 4 |
| es | Síndrome de ictiosis y prematuridad | IPS · Ictiosis congénita tipo 4 |
| it | Sindrome ittiosi-prematurità | IPS · Ittiosi congenita, tipo 4 |
| nl | Ichthyosis - prematuriteit-syndroom | Congenitale ichthyosis type 4 · IPS |
| pt | Síndrome da ictiose da prematuridade | |
| pl | Zespół rybiej łuski wcześniaków | IPS · Wrodzona rybia łuska typu 4 |
| cs | Syndrom ichtyózy a předčasného narození (prematurity) | Vrozená ichtyóza, typ 4 · IPS |
| uk | Синдром іхтіозу у передчаснораноджених | Вроджений іхтіоз типу 4 · IPS |
| zh | 鱼鳞病-性早熟综合征 | 先天性鱼鳞病4型 |
| tr | İktiyoz-prematüre sendromu | IPS · Doğumsal iktiyoz tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608649 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0012089 | E | validated | |
| MeSH | C536271 | E | validated | |
| UMLS | C1837610 | E | validated | |
| GARD | 9886 | 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 (1):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC27A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10998 | ENSG00000167114 | 604194 | 9q34.11 | solute carrier family 27 member 4 | 19631310[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007549 | Desquamation of skin soon after birth | |
| HP:0008064 | Ichthyosis | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001622 | Premature birth | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 19631310[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88621
- This record as JSON: /data/d/88621.json