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nail-patella syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Absent distal interphalangeal creases; and common findings: Limited elbow extension, Iliac horns, Excessive inward curve of the lower back (lumbar hyperlordosis), and Pes planus and others. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Nephrotic syndrome, Reduced kidney function (renal insufficiency), Glomerulonephritis
Eyes	4	Keratoconus, Cataract, Ptosis
Bones and joints	3	Excessive inward curve of the lower back (lumbar hyperlordosis), Disproportionate prominence of the femoral medial condyle, Sideways curvature of the spine (scoliosis)
Skin	2	Ridged nail, Concave nail
Head and neck	2	Cleft palate, Cleft upper lip
Growth and development	1	Short stature
Muscles	1	Absence of pectoralis minor muscle
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Arms and legs	1	Clinodactyly of the 5th finger

GeneReviews

Clinical Guidance

The classic clinical tetrad of nail-patella syndrome (NPS) involves changes in the nails, knees, and elbows and the presence of iliac horns . Many other features may be seen in NPS, including kidney disease and glaucoma . The clinical manifestations are extremely variable in both frequency and severity, with inter- and intrafamilial variability. Individuals may be severely affected by one aspect of NPS but have much milder or no manifestations elsewhere. Though the skeleton is affected in NPS, affected individuals are of average stature. To date, more than 170 pathogenic variants in LMX1B have been reported in individuals identified to have NPS [, , , , , , , , ]. However, approximately 5%-10% of individuals with clinical and radiographic findings of NPS do not have a detectable pathogenic variant in LMX1B. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of Nail-Patella Syndrome

Feature	% of Persons w/Feature	Comment
Nail changes	96%-98%

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal clinical diagnostic criteria for nail-patella syndrome (NPS) have not been published, although iliac horns (bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis) are considered pathognomonic.

Suggestive Findings

Nail-patella syndrome (NPS) should be suspected in individuals with the following clinical and radiologic findings.

Clinical findings

Source: GeneReviews — "Nail-Patella Syndrome"

GeneReviews

Differential Diagnosis

Table 3a. Genes of Interest in the Differential Diagnoses of Nail-Patella Syndrome

Gene(s)	Disorder	MOI	Clinical Features of Disorder
Coffin-Siris syndrome	AD	Absence or hypoplasia of nails patellae; Elbow dislocation	Nail hypoplasia, usually affecting the little finger nails; Facial dysmorphism CDC6 CDC45 CDT1 GMNN MCM5 ORC1 ORC4
ORC6	Meier-Gorlin syndrome (OMIM PS224690)

Genetic testing for LMX1B is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for nail-patella syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with nail-patella syndrome (NPS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Nail-Patella Syndrome

System/Concern	Evaluation	Comment
Musculoskeletal	History physical exam to detect orthopedic issues or concerns	If present, referral to orthopedist; Before surgery or intensive physiotherapy for orthopedic complaints; investigation via MRI for possible bone/soft tissue anatomic abnormalities Consideration of formal quantification of BMD via DXA scan1,2,3
Ophthalmologic	Measurement of intraocular pressure, exam of optic disc, assessment of visual fields5	To detect glaucoma, incl normal-pressure glaucoma; To be completed as soon as child can cooperate w/exam; Referral to ophthalmologist
Gastrointestinal	Assessment for signs symptoms of constipation or irritable bowel syndrome	Consider referral to gastroenterologist.
Neurologic	Assessment for pain temperature sensation in hands feet	Assessment for signs symptoms of epilepsy
Dental	Examination of teeth for weakness, crumbling, or thin enamel	Referral to dentist; consider urgent referral if abnormalities noted.
Vasomotor	Assessment of peripheral circulation	Genetic
counseling	By genetics professionals6	To obtain a pedigree inform affected persons their families re nature, MOI, implications of NPS to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Nail-Patella Syndrome Manifestation/Concern	Treatment	Considerations/Other
Joint symptoms1	Analgesics, physiotherapy, splinting, /or bracing	Anatomic joint
abnormalities2	Standard treatment per orthopedist incl possible surgical correction	MRI of joints to identify abnormal anatomy prior to surgery so that appropriate surgical treatment can be planned in advance bone mineral
density3	No established treatment specific to NPS; standard treatment per pediatric/adult endocrinologist	—
Hypertension	Standard treatment per nephrologist	Mild-to-moderate
kidney disease	Standard treatment per nephrologist	ACE inhibitors are useful in slowing progression of proteinuria, but their use should be monitored carefully in children.; Steroids may not be effective in treatment of proteinuria.4
ESKD	Kidney replacement therapy w/consideration of kidney transplant	Results of kidney transplant are usually favorable.
Constipation	Standard treatment	—
Inflammatory bowel disease	Standard treatment per gastroenterologist	—
Glaucoma	Standard treatment per ophthalmologist	pain temperature sensation in hands feet

Source: GeneReviews — "Nail-Patella Syndrome"

GeneReviews

Clinical Guidance

Chronic use of nonsteroidal anti-inflammatory drugs should be avoided because of their detrimental effect on kidney function.

Source: GeneReviews — "Nail-Patella Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Nail-Patella Syndrome"

Clinical Trials

1 trial found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Nail-Patella Syndrome

System/Concern	Evaluation	Frequency
Hypertension	Measurement of blood pressure	At least annually Renal
Dental	Exam by dentist	At least every 6 mos
Osteoporosis	DXA scan3	As needed4 DXA = dual-energy x-ray absorptiometry 1. Referral to a nephrologist if any abnormalities are detected 2. From the time that a child is compliant with the examination 3. Age-adjust results for child.

Source: GeneReviews — "Nail-Patella Syndrome"

Phenotype severity distribution: 1 very common feature, 6 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

40 publications have been identified in PubMed for nail-patella syndrome. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	23	57%
Research summaries	5	13%
Laboratory research	5	13%
Other research	3	8%
New treatment approaches	3	8%
Clinical study results	1	3%

Recent Publications

Brunelle P (2026). [PMID: 41776344](https://pubmed.ncbi.nlm.nih.gov/41776344/). *European journal of human genetics : EJHG*. [Gene Therapy / Novel Therapeutics]
Sinha S (2026). [PMID: 41806972](https://pubmed.ncbi.nlm.nih.gov/41806972/). *Nephrology (Carlton, Vic.)*. [Clinical Trial Publication]
Sampath Kumar D (2026). [PMID: 41782702](https://pubmed.ncbi.nlm.nih.gov/41782702/). *Clinical nephrology. Case studies*. [Case Report / Case Series]
Jiang L (2026). [PMID: 41249554](https://pubmed.ncbi.nlm.nih.gov/41249554/). *Pediatric nephrology (Berlin, Germany)*. [Case Report / Case Series]
Beaugé A (2026). [PMID: 41716707](https://pubmed.ncbi.nlm.nih.gov/41716707/). *Frontiers in pediatrics*. [Review / Meta-Analysis]
Chhatriwala BF (2026). [PMID: 41815646](https://pubmed.ncbi.nlm.nih.gov/41815646/). *Journal of orthopaedic case reports*. [Case Report / Case Series]
Lovelace PD (2026). [PMID: 32644616](https://pubmed.ncbi.nlm.nih.gov/32644616/). *Unknown Journal*. [Other]
Sebastião MR (2026). [PMID: 41942626](https://pubmed.ncbi.nlm.nih.gov/41942626/). *Clin Rheumatol*. [Other]
Sajjad A (2026). [PMID: 41992156](https://pubmed.ncbi.nlm.nih.gov/41992156/). *BMC Nephrol*. [Case Report / Case Series]
Li J (2026). [PMID: 42227193](https://pubmed.ncbi.nlm.nih.gov/42227193/). *Br J Dermatol*. [Review / Meta-Analysis]

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nail-patella syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

nail-patella syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.