Pseudoprogeria syndrome
historical
Synonyms: Absent eyebrows and eyelashes-intellectual disability syndrome · Hal-Berg-Rudolph syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoprogeria syndrome | Absent eyebrows and eyelashes-intellectual disability syndrome · Hal-Berg-Rudolph syndrome |
| fr | Pseudoprogéria | Syndrome d'absence de sourcils et de cils-déficience intellectuelle · Syndrome de Hal-Berg-Rudolph |
| de | Pseudo-Progerie-Syndrom | Fehlende Augenbrauen und Lider-Intelligenzminderung-Syndrom · Hal-Berg-Rudolph-Syndrom |
| es | Síndrome de pseudoprogeria | Síndrome de Hal-Berg-Rudolph · Síndrome de ausencia de cejas y pestañas-discapacidad intelectual |
| it | Pseudoprogeria | Sindrome di Hal-Berg-Rudolph · Sindrome assenza delle sopracciglia e delle ciglia- disabilità intellettiva |
| nl | Pseudoprogeria-syndroom | Afwezige wenkbrauwen en wimpers - intellectuele achterstand-syndroom · Syndroom van Hal-Berg-Rudolph |
| pt | Síndrome de pseudo-progeria | Síndrome Hal-Berg-Rudolph · Síndrome de ausência de sobrancelhas e pestanas-perturbação do desenvolvimento intelectual |
| pl | Zespół pseudoprogerii | Brak brwi i rzęs - niepełnosprawność intelektualna · Zespół Hala, Berga i Rudolpha |
| cs | Syndrom pseudoprogerie | Syndrom zahrnující absenci obočí a očních řas a mentální retardaci · Halův-Bergův-Rudolphův syndrom · Hal-Berg-Rudolphův syndrom |
| uk | Синдром псевдопрогерії | Синдром відсутності брів та вій - інтелектуальної недостатності · Синдром Хал-Берга-Рудольфа |
| zh | 假性早衰综合征 | 眉毛和睫毛缺如-智力障碍综合征 |
| tr | Psödoprogeria sendromu | Hal-Berg-Rudolph sendromu · Kaş ve kirpik yokluğu-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200130 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008694 | E | validated | |
| MeSH | C563111 | E | validated | |
| UMLS | C0796125 | E | validated | |
| GARD | 415 | 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:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
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 | 2 cases | Worldwide | Case(s) | Validated | 4418946[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4418946[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
20 annotations · validated 2016-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001249 | Intellectual disability | |
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000320 | Bird-like facies | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004423 | Cranium bifidum occultum | |
| HP:0004325 | Decreased body weight | |
| HP:0001508 | Failure to thrive | |
| HP:0000501 | Glaucoma | |
| HP:0001510 | Growth delay | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0011832 | Narrow nasal tip | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0009745 | Spinalarachnoid cyst | |
| HP:0000963 | Thin skin | |
Annotation source: 4418946[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2985
- This record as JSON: /data/d/2985.json