Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
historical
Synonyms: Passwell-Goodman-Siprkowski syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies syndrome characterized by nonbullous congenital ichthyosis (skin lesions are predominantly detected on the back and extensor surfaces of the limbs, including the flexures; the face is not affected), moderate intellectual disability, dwarfism and renal impairment. Moderate hirsutism may also be present. No significant facial dysmorphism has been reported. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | Passwell-Goodman-Siprkowski syndrome |
| fr | Syndrome d'ichtyose-déficience intellectuelle-nanisme-anomalie rénale | Syndrome de Passwell-Goodman-Siprkowski |
| de | Ichthyose-Intelligenzminderung-Kleinwuchs-Niereninsuffizienz-Syndrom | Passwell-Goodman-Ziprkowski-Syndrom |
| es | Síndrome de ictiosis-discapacidad intelectual-talla baja significativa-afectación renal | Síndrome de Passwell-Goodman-Siprkowski |
| it | Sindrome ittiosi-disabilità intellettiva-nanismo-insufficienza renale | Sindrome di Passwell-Goodman-Siprkowski |
| nl | Ichthyosis - intellectuele achterstand - dwerggroei - nierfunctiestoornis-syndroom | Syndroom van Passwell-Goodman-Siprkowski |
| pt | Síndrome de ictiose-perturbação do desenvolvimento intelectual-nanismo-disfunção renal | Síndrome Passwell-Goodman-Siprkowski |
| pl | Rybia łuska - niepełnosprawność intelektualna - karłowatość - niewydolność nerek | Zespół Passwella, Goodmana i Siprkowskiego |
| cs | Syndrom zahrnující ichtyózu, mentální retardaci, trpaslictví a poruchu ledvin | Passwellův-Goodmanové-Ziprkowského syndrom · Passwell-Goodman-Ziprkowského syndrom |
| uk | Синдром іхтіозу-інтелектуальної недостатності-карликовості- ниркової недостатності | Синдром Пассвелла-Гудмана-Сипковського |
| zh | 鱼鳞病-智力障碍-侏儒症-肾损害综合征 | Passwell-Goodman-Siprkowski 综合征 |
| tr | İktiyoz-zihinsel yetersizlik-cücelik-böbrek yetmezliği sendromu | Passwell-Goodman-Siprkowski sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242530 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0009446 | E | validated | |
| MeSH | C536274 | E | validated | |
| UMLS | C4518580 | E | validated | |
| GARD | 4641 | 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 (6):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related 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 | 1149323[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ 1149323[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
9 annotations · validated 2017-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0001508 | Failure to thrive | |
| HP:0001249 | Intellectual disability | |
| HP:0003510 | Severe short stature | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000518 | Cataract | |
| Occasional (29-5%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0008209 | Premature ovarian insufficiency | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2278
- This record as JSON: /data/d/2278.json