autosomal recessive congenital ichthyosis 4B
Findings
No curated finding names autosomal recessive congenital ichthyosis 4B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
Definition from the Mondo Disease Ontology (MONDO:0009443), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital ichthyosiform erythrodermaHPOHP:0007431
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- EctropionHPOHP:0000656
- 3 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Hearing abnormalityHPOHP:0000364
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCA12HGNC:14637
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: autosomal recessive congenital ichthyosis 4B
- Also called
- ARCI4Bautosomal recessive congenital ichthyosis type 4BHarlequin IchthyosisHIichthyosis , congenital, autosomal recessive 4b (harlequin)ichthyosis congenita, Harlequin typeichthyosis fetalis, Harlequin typeichthyosis, congenital, autosomal recessive type 4B