CHILD syndrome

info · Syndrome

A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28.

Signs and symptoms

Unilateral renal agenesis
2-5 finger cutaneous syndactyly
Single transverse palmar crease
Aplasia of the distal phalanx of the 3rd finger
4-5 toe syndactyly
Absent toe
Congenital ichthyosiform erythroderma
Absent middle phalanx of 2nd finger
Finger syndactyly
Hyperkeratosis

Also known as: CHILD nevus; congenital hemidysplasia with ichthyosiform nevus and limbs defects