ORPHA:457
Harlequin ichthyosis
Also called Autosomal congenital ichthyosis, Harlequin type, HI, Ichthyosis congenita, Harlequin type
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:457 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Hearing abnormality
- Depressed nasal ridge
- Ectropion
- Hyperkeratosis
- Recurrent respiratory infections
- Congenital ichthyosiform erythroderma