Epiphyseal stippling-osteoclastic hyperplasia syndrome
Synonyms: Pacman dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epiphyseal stippling-osteoclastic hyperplasia syndrome | Pacman dysplasia |
| fr | Syndrome épiphyses ponctuées-hyperplasie ostéoclastique | Dysplasie de Pacman |
| de | Epiphysäre Tüpfelung-osteoklastische Hyperplasie-Syndrom | Pacman-Dysplasie |
| es | Síndrome de epífisis punteada-hiperplasia osteoclástica | Displasia de Pacman |
| it | Sindrome delle epifisi punteggiate-iperplasia osteoclastica | Displasia di Pacman |
| nl | Epifysaire stippeling - osteoclastische hyperplasie-syndroom | Pacman-dysplasie |
| pt | Síndrome de epífises ponteadas-hiperplasia osteoclástica | Displasia Pacman |
| pl | Dysplazja Pacmana | Zespół kropkowatych nasad - hiperplazja osteoklastyczna |
| cs | Pacman dysplázie | Syndrom zahrnující epifyzární tečkování a osteoklastickou hyperplázii |
| uk | Синдром епіфізарної смугасто-остеокластичної гіперплазії | Дисплазія Пакмана |
| zh | Pacman发育不良 | 点彩性骨骺综合征-破骨细胞增生综合征 |
| tr | Pacman displazisi | Epifizyal benekleme sendromu-osteoklastik hiperplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167220 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0008175 | E | validated | |
| MeSH | C538095 | E | validated | |
| UMLS | C1833676 | E | validated | |
| GARD | 4189 | 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:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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 | 12709756[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12709756[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0006487 | Bowing of the long bones | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0002970 | Genu varum | |
| HP:0000601 | Hypotelorism | |
| HP:0005716 | Lethal skeletal dysplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0100670 | Rough bone trabeculation | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1952
- This record as JSON: /data/d/1952.json