Rare Disease Library

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

Aplasia cutis congenita

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

Non-syndromic terminal transverse limb defect

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect