Table 3b.

Chromosome Disorder and Hereditary Disorders of Unknown Genetic Cause in the Differential Diagnoses of Nail-Patella Syndrome

DisorderClinical Features of Disorder
Overlapping w/NPSDistinguishing from NPS
Brachymorphism-
onychodysplasia-
dysphalangism
syndrome (OMIM
113477)		Small nails
  • Characteristic facial appearance
  • Short stature
  • Mild intellectual impairment
Patella aplasia
hypoplasia (OMIM
168860)		Isolated aplasia OR hypoplasia of the patellaNo nail or elbow changes, renal involvement, or ocular involvement
Trisomy 8
mosaicism 1
  • Absent or hypoplastic patellae
  • Limited elbow supination
  • Abnormal nails
  • Significant learning difficulties
  • Variable facial dysmorphism
  • Camptodactyly & progressive joint restriction, usually of fingers & toes

NPS = nail-patella syndrome

1.

From: Nail-Patella Syndrome

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