Table 2.

Differential Diagnoses of Nail-Patella Syndrome

Small patella syndrome
(ischiopatellar dysplasia, coxo-podo-patellar syndrome, Scott-Taor syndrome)
Small or absent patellae
Recurrent patella dislocations
Pelvic anomalies
Defective ossification at the ischiopubic junction
Ischial hypoplasia
Infra-acetabular "axe-cut" notch
No nail changes
No elbow changes
No renal involvement
No ocular involvement
OMIM 147891,
Bongers et al [2004]
Patella aplasia-hypoplasia (PTLAH)Isolated aplasia OR
Hypoplasia of the patella
No nail changes
No elbow changes
No renal involvement
No ocular involvement
OMIM 168860
Familial recurrent dislocation of the patellaFamilial tendency toward patella dislocation OMIM 169000
Meier-Gorlin syndromeAbsent patellae
Dislocation of the radial head
Markedly short stature
Delayed bone age
Characteristic facial appearance
Autosomal recessive inheritance
OMIM 224690
Genitopatellar syndromeAbsent patellae
Renal anomalies
Flexion deformities of the knees and hips
Club foot
Hypoplasia of the ischia and iliac bones
Genital anomalies
Facial dysmorphism
Intellectual disability
Structural (multicystic kidneys or hydronephrosis) rather than functional abnormalities
Renal manifestations
OMIM 606170,
Cormier-Daire et al [2000]
DOOR syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome)Absent or poorly formed nailsLong thumbs and big toes, often with triphalangy
Other fingers and toes short as the result of an absent or hypoplastic distal phalanx
Bilateral ptosis
Short broad nose with a broad nasal tip and large nostrils
Structural renal tract abnormalities
Optic atrophy
Dandy-Walker malformation
Autosomal recessive inheritance
OMIM 220500,
Winter & Baraitser [2000]
Trisomy 8 mosaicismAbsent or hypoplastic patellae
Limited elbow supination
Abnormal nails
Significant learning difficulties
Variable facial dysmorphism
Camptodactyly and progressive joint restriction, usually of the fingers and toes
Jones [1997]
Coffin-Siris syndrome Absence or hypoplasia of the nails and patellae
Elbow dislocation
Nail hypoplasia, usually affecting the little finger nails
Facial dysmorphism
OMIM 135900,
Winter & Baraitser [2000]
RAPADILINO syndrome (see Rothmund-Thomson Syndrome, Genetically Related Disorders) Radial defects
Absent or hypoplastic patellae
Dislocated joints
Cleft palate
Facial dysmorphism
Short stature
Radial defects, including absent or hypoplastic thumbs and radii
Autosomal recessive inheritance
OMIM 266280,
Winter & Baraitser [2000]
Senior syndrome (Brachymorphism-onychodysplasia-dysphalangism syndrome)Small nailsCharacteristic facial appearance
Short stature
Mild intellectual impairment
OMIM 113477

From: Nail-Patella Syndrome

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