ORPHA:3207
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
historical
Synonyms: Curatolo-Cilio-Pessagno syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | Curatolo-Cilio-Pessagno syndrome |
| fr | Syndrome d'hypoplasie de la substance blanche-agénésie du corps calleux-déficience intellectuelle | Syndrome de Curatolo-Cilio-Pessagno |
| de | Hypoplasie der weißen Gehirnsubstanz-Corpus-callosum-Agenesie-Intelligenzminderung-Syndrom | Caratolo-Cilio-Pessagno-Syndrom |
| es | Síndrome de hipoplasia de la sustancia blanca-agenesia del cuerpo calloso-discapacidad intelectual | Síndrome de Curatolo-Cilio-Pessagno |
| it | Sindrome ipoplasia della sostanza bianca-agenesia del corpo calloso-disabilità intellettiva | Sindrome Curatolo-Cilio-Pessagno |
| nl | Hypoplasie van witte stof - agenesie van corpus callosum - intellectuele achterstand-syndroom | Syndroom van Curatolo-Cilio-Pessagno |
| pt | Síndrome de hipoplasia da substância branca-agenesia do corpo caloso-perturbação do desenvolvimento intelectual | Síndrome Curatolo-Cilio-Pessagno |
| pl | Hipoplazja istoty białej - agnezja ciała modzelowatego - niepełnosprawność intelektualna | Zespół Curatolo, Cilio i Pessagno |
| cs | Syndrom zahrnující hypoplázii bílé hmoty, agenezi corpus callosum a mentální retardaci | Curatolův-Ciliův-Pessagnův syndrom · Curatolo-Cilio-Pessagnův syndrom |
| uk | Синдром гіпоплазії білої речовини-агенезії мозолистого тіла-інтелектуальної недостатності | Синдром Куратоло-Чіліо-Пессаньо |
| zh | 白质发育不全-胼胝体发育不全-智力障碍综合征 | Curatolo-Cilio-Pessagno 综合征 |
| tr | Beyaz cevher hipoplazisi-korpus kallozum agenezisi-zihinsel yetersizlik sendromu | Curatolo-Cilio-Pessagno sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0017918 | E | validated | |
| MeSH | C536701 | E | validated | |
| UMLS | C2931292 | E | validated | |
| GARD | 5560 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8327066[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8327066[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.
6
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0002007 | Frontal bossing | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000664 | Synophrys | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3207
- This record as JSON: /data/d/3207.json