Hypohidrotic Ectodermal Dysplasia with Immune Deficiency, Osteopetrosis and Lymphoedema - Key Clinical Features

(1) Severe recurrent infections - respiratory tract, skin, soft tissues, bones, GI tract

(2) Meningitis and septicaemia may occur in early childhood

(3) Failure to thrive

(4) Lymphoedema

(5) Osteopetrosis

(6) Lower-than-normal number of teeth

(7) Delayed or absent tooth formation

(8) Inability to sweat

(9) Absent tears (occasional)

(10) Thin skin

(11) Decreased skin pigment

(12) Foul-smelling nasal discharge

(13) Poor temperature regulation

(14) Heat intolerance

(15) Scanty hair

(16) Absent hair

(17) Abnormal nails

(18) Low nasal bridge