autosomal recessive congenital ichthyosis 4B

Term ID

DOID:0060713

Synonyms

• ARCI4B
• harlequin ichthyosis
• harlequin type ichthyosis congenita
• harlequin type ichthyosis fetalis

Definition

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. (2)

References

• ICD10CM:Q80.4
• OMIM:242500
• ORDO:457

Ontology

Human Disease   ( DOID:0060713 )