Table 2. [Select Features of Nail-Patella Syndrome]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Nail changes	96%-98%	The thumb nail is most severely affected; the ulnar side of each nail is more severely affected [Sweeney et al 2003, Ghoumid et al 2016].
Digital changes	~90%
Knee involvement	74%	Sweeney et al [2003]
Elbow involvement	70%	Sweeney et al [2003]
Illiac horns on radiographs	70%-76%	Pathognomonic for NPS [Tigchelaar et al 2015, Ghoumid et al 2016]
Tight Achilles tendons	Unknown prevalence, likely secondary to knee pterygium	May contribute to talipes equinovarus and to-walking
Arthrogryposis	Depending on classification of arthrogryposis, ≤75%	Sabir et al [2020]
↓ bone mineral density	Unknown prevalence from limited data, but documented	Towers et al [2005]
Renal involvement	30%-50%	Tigchelaar et al [2015]
Ophthalmologic involvement	10%-25%	Most often presenting as proteinuria, w/or w/o hematuria
Gastrointestinal involvement	~30%	Incl constipation or irritable bowel syndrome
↓ sensation to pain & temperature in hands & feet	~25%	Sweeney et al [2003], Dunston et al [2005], López-Arvizu et al [2011]
Seizures	~6%
End-stage kidney failure	Rare to 15%	Price et al [2018], Harita et al [2020]
Vascular anomalies	Rare	Unclear if this is a rare co-occurrence or part of NPS

Feature

% of Persons w/Feature

Comment

Nail changes

96%-98%

The thumb nail is most severely affected; the ulnar side of each nail is more severely affected [Sweeney et al 2003, Ghoumid et al 2016].

Digital changes

~90%

Knee involvement

74%

Sweeney et al [2003]

Elbow involvement

70%

Sweeney et al [2003]

Illiac horns on radiographs

70%-76%

Pathognomonic for NPS [Tigchelaar et al 2015, Ghoumid et al 2016]

Tight Achilles tendons

Unknown prevalence, likely secondary to knee pterygium

May contribute to talipes equinovarus and to-walking

Arthrogryposis

Depending on classification of arthrogryposis, ≤75%

Sabir et al [2020]

↓ bone mineral density

Unknown prevalence from limited data, but documented

Towers et al [2005]

Renal involvement

30%-50%

Tigchelaar et al [2015]

Ophthalmologic involvement

10%-25%

Most often presenting as proteinuria, w/or w/o hematuria

Gastrointestinal involvement

~30%

Incl constipation or irritable bowel syndrome

↓ sensation to pain & temperature in hands & feet

~25%

Sweeney et al [2003], Dunston et al [2005], López-Arvizu et al [2011]

Seizures

~6%

End-stage kidney failure

Rare to 15%

Price et al [2018], Harita et al [2020]

Vascular anomalies

Rare

Unclear if this is a rare co-occurrence or part of NPS

From: Nail-Patella Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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