ORPHA:2614
Nail-patella syndrome
Synonyms: Onychoosteodysplasia · Turner-Kieser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nail-patella syndrome | Onychoosteodysplasia · Turner-Kieser syndrome |
| fr | Syndrome nail-patella | Onycho-ostéodysplasie · Ostéo-onychodysplasie héréditaire · Syndrome de Turner-Kieser |
| de | Nagel-Patella-Syndrom | Osteoonychodysplasie · Turner-Kieser-Syndrom |
| es | Síndrome uña-rótula | |
| it | Sindrome nail-patella | Onico-osteo-displasia · Sindrome di Turner-Kieser |
| nl | Nagel - patella-syndroom | Onycho-osteodysplasie · Syndroom van Turner-Kieser |
| pt | Síndrome unha-rótula | Onico-osteo-displasia · Síndrome Turner-Kieser |
| pl | Zespół paznokieć-rzepka | Onychoosteodysplazja · Zespół Turnera i Kiesera |
| cs | Syndrom nehet-patela | Osteoonychodysplázie · Nail-patella syndrom · Turnerův-Kieserův syndrom · Turner-Kieserův syndrom |
| uk | Нігтьово-колінний синдром | Оніхоостеодисплазія · Синдром Тернера-Кізера |
| zh | 指甲-髌骨综合征 | Turner-Kieser综合征 |
| tr | Nail-patella sendromu | Onikoosteodisplazi · Turner-Kieser sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161200 | E | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD24.J0 | E | specific | validated |
| MONDO | 0008061 | E | validated | |
| MeSH | D009261 | E | validated | |
| UMLS | C0027341 | E | validated | |
| GARD | 7160 | E | validated | |
| MedDRA | 10063431 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98704OBSOLETE: Onycho-patellar syndrome with eye involvement referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMX1B | Disease-causing germline mutation(s) in | Assessed | HGNC:6654 | ENSG00000136944 | 602575 | 9q33.3 | LIM homeobox transcription factor 1 beta | 20301311[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.2 / 100 000 | United Kingdom | Value and class | Validated | 10972657[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 10972657[PMID]_16825280[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Australia | Value and class | Validated | 16825280[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.
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HPO phenotypes
72 annotations · validated 2021-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0001597 | Abnormal nail morphology | |
| Frequent (79-30%) | ||
| HP:0008034 | Abnormal iris pigmentation | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0002815 | Abnormality of the knee | |
| HP:0001369 | Arthritis | |
| HP:0003418 | Back pain | |
| HP:0002019 | Constipation | |
| HP:0003199 | Decreased muscle mass | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0008110 | Equinovarus deformity | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001371 | Flexion contracture | |
| HP:0009780 | Iliac horns | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0001763 | Pes planus | |
| Occasional (29-5%) | ||
| HP:0031910 | Abnormal cranial nerve physiology | |
| HP:0003045 | Abnormal patella morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0031006 | Acroparesthesia | |
| HP:0009760 | Antecubital pterygium | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers | |
| HP:0002967 | Cubitus valgus | |
| HP:0003083 | Dislocated radial head | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000790 | Hematuria | |
| HP:0009890 | High anterior hairline | |
| HP:0000348 | High forehead | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0006380 | Knee flexion contracture | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0030839 | Knee pain | |
| HP:0009781 | Lester's sign | |
| HP:0001377 | Limited elbow extension | |
| HP:0006394 | Limited pronation/supination of forearm | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000123 | Nephritis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0007906 | Ocular hypertension | |
| HP:0012108 | Open angle glaucoma | |
| HP:0010886 | Osteochondritis Dissecans | |
| HP:0000939 | Osteoporosis | |
| HP:0006443 | Patellar aplasia | |
| HP:0002999 | Patellar dislocation | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0008007 | Primary congenital glaucoma | |
| HP:0000093 | Proteinuria | |
| HP:0005190 | Proximal finger joint hyperextensibility | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003302 | Spondylolisthesis | |
| HP:0003304 | Spondylolysis | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0001884 | Talipes calcaneovalgus | |
| HP:0008124 | Talipes calcaneovarus | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0004722 | Thickening of the glomerular basement membrane | |
| HP:0030051 | Tip-toe gait | |
| HP:0100797 | Toenail dysplasia | |
| Very rare (<4-1%) | ||
| HP:0002597 | Abnormality of the vasculature | |
| HP:0006702 | Coronary artery dissection | |
| HP:0005290 | Internal carotid artery hypoplasia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32644616[PMID]_20301311[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2614
- This record as JSON: /data/d/2614.json