autosomal recessive congenital ichthyosis 14

ORPHA: 313

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal recessive congenital ichthyosis 14, sourced from HPO and Orphanet clinical annotations.

EctropionDry skinHyperkeratosisPruritusErythrodermaAbnormal nail morphologyIchthyosisSparse hairLack of skin elasticityAplasia/Hypoplasia of the eyebrowEverted lower lip vermilionAbnormal helix morphologyRenal insufficiencyAbnormality of the dentitionChronic otitis mediaDehydrationRecurrent respiratory infectionsShort statureCognitive impairmentGangreneSepsis

Classification & Codes

Orphanet Code

ORPHA:313

autosomal recessive congenital ichthyosis 14

Orphanet	`ORPHA:313`
Treatments	0 drug(s)
Symptoms on record	21 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO