focal dermal hypoplasia

info · Syndrome

A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.

Signs and symptoms

3-4 finger cutaneous syndactyly
Hypopigmentation of the skin
Split hand
Ridged nail
Short 4th metacarpal
Focal dermal aplasia/hypoplasia
Pointed chin
Congenital hip dislocation
Toe syndactyly
Delayed eruption of teeth

Also known as: FDH; FODH; Goltz syndrome; Goltz-Gorlin syndrome