Pyle disease
Synonyms: Metaphyseal dysplasia, Pyle type · SFRP4-related Pyle disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyle disease | Metaphyseal dysplasia, Pyle type · SFRP4-related Pyle disease |
| fr | Maladie de Pyle | Dysplasie métaphysaire de Pyle |
| de | Pyle-Krankheit | Metaphysäre Dysplasie Typ Pyle · Pyle-Syndrom · SFRP4-assoziierte Pyle-Krankheit |
| es | Enfermedad de Pyle | Displasia metafisaria tipo Pyle · Enfermedad de Pyle asociada a SFRP4 |
| it | Malattia di Pyle | Displasia metafisaria tipo Pyle · Malattia di Pyle correlata a SFRP4 |
| nl | Ziekte van Pyle | Metafysaire dysplasie, Pyle-type · SFRP4-gerelateerde ziekte van Pyle |
| pt | Doença Pyle | Displasia metafisária, tipo Pyle · Doença Pyle SFRP4-relacionada |
| pl | Choroba Pyle'a | Dysplazja przynasadowa, typu Pyle'a |
| cs | Pyleova nemoc | Metafyzární dysplázie, Pyleův typ |
| uk | Хвороба Пайла | Метафізарна дисплазія, тип Pyle · SFRP4-асоційована хвороба кісткової тканини |
| zh | Pyle病 | 干骺端发育不良，Pyle型 |
| tr | Pyle hastalığı | Metafizyal displazi, Pyle tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265900 | E | validated | |
| ICD-10 | Q78.5 | NTBT | inclusion | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009943 | E | validated | |
| MeSH | C536252 | E | validated | |
| UMLS | C0265294 | E | validated | |
| GARD | 4612 | E | validated | |
| MedDRA | 10066147 | 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:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SFRP4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10778 | ENSG00000106483 | 606570 | 7p14.1 | secreted frizzled related protein 4 | 27355534[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | 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
18 annotations · validated 2025-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
| HP:0002857 | Genu valgum | |
| Frequent (79-30%) | ||
| HP:0000670 | Carious teeth | |
| HP:0005464 | Craniofacial osteosclerosis | |
| HP:0000689 | Dental malocclusion | |
| HP:0003051 | Enlarged metaphyses | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000303 | Mandibular prognathia | |
| HP:0006599 | Medial widening of clavicles | |
| HP:0000411 | Protruding ear | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0003418 | Back pain | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0001324 | Muscle weakness | |
| HP:0000926 | Platyspondyly | |
| HP:0002650 | Scoliosis | |
| HP:0010539 | Thin calvarium | |
| HP:0002645 | Wormian bones | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 27245543[PMID]_27920870[PMID]_29463445[PMID]_36138002[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3005
- This record as JSON: /data/d/3005.json