autosomal recessive congenital ichthyosis 4B

An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_

An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

Signs and symptoms

• Congenital ichthyosiform erythroderma
• Premature birth
• Everted lower lip vermilion
• Rigidity
• Short finger
• Proptosis
• Failure to thrive
• Ectropion
• Motor delay

Also known as: ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis