nail-patella syndrome
Findings
No curated finding names nail-patella syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008061), read 2026-09-29. CC BY 4.0.
Features
73 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.
- Absent distal interphalangeal creasesHPOHP:0001032
- 114 of 119 reported patients
- Abnormal digit morphologyHPOHP:0011297
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Patellar hypoplasiaHPOHP:0003065
- 179 of 237 reported patients
- Occasional (5% to 29% of cases)
- Limited elbow extensionHPOHP:0001377
- 167 of 240 reported patients
- Occasional (5% to 29% of cases)
- Iliac hornsHPOHP:0009780
- 34 of 50 reported patients
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- 76 of 118 reported patients
- Frequent (30% to 79% of cases)
- Abnormal gastrointestinal tract morphologyHPOHP:0012718
- Frequent (30% to 79% of cases)
- Abnormal iris pigmentationHPOHP:0008034
- Frequent (30% to 79% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
Show the remaining 61
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- 66 of 120 reported patients
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Decreased muscle massHPOHP:0003199
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
- Equinovarus deformityHPOHP:0008110
- Frequent (30% to 79% 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.
- LMX1BHGNC:6654
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: nail-patella syndrome
- Also called
- Fong diseasehereditary Osteo-onychodysplasiaNail Patella SyndromeNPS 1NPS1onychoosteodysplasiaosteo-onychodysplasiaTurner-Kieser syndrome