Pyle disease
Findings
No curated finding names Pyle disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
Definition from the Mondo Disease Ontology (MONDO:0009943), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Metaphyseal wideningHPOHP:0003016
- 4 of 4 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 2 of 2 reported patients
- Thin bony cortexHPOHP:0002753
- 4 of 4 reported patients
- Erlenmeyer flask deformity of the femursHPOHP:0004975
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
Show the remaining 16
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- Absent paranasal sinusesHPOHP:0002689
- 1 of 2 reported patients
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
- Delayed eruption of permanent teethHPOHP:0000696
- Occasional (5% to 29% of cases)
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SFRP4HGNC:10778
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
6 names
Resolves to: Pyle disease
- Also called
- Bakwin-Krida syndromemetaphyseal dysplasia Pyle typemetaphyseal dysplasia, Pyle typePyle-Cohn syndromePyle's diseasePyle's syndrome