Ectodermal dysplasia

Question 1

Nail patella syndrome

Answer 1

AD
LMX1B
M=F

Onset birth

Nails

• typically thumb>index>other fingers, toenails rare
• triangular lunula
• Micronychia, hemionychia, anonychia, longitudinal fissures  nail dystrophy more on radial side

Palmoplantar hyperhidrosis

Musculoskeletal

• Hypoplastic or absent patella, altered gait, ostearthritis
• OA, scoliosis
• Posterior iliac horns
• Radial head subluxation, thickened scapula

Eyes
- Lester iris hyperpigmentation (of pupillary margin of iris)
- Cataracts
- Glaucoma
- Heterochromia iridies
Renal
- 40% Glomerulonephritis, renal dysplasia, 8% renal failure

IX
Genetics - DNA analysis
USS
Ortho – XRAYS
Opthal
Renal - urinalysis

DDX
Anonychia
LP
Trauma