focal facial dermal dysplasia type IV

ORPHA: 398189

Contents

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

Overview

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions

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 focal facial dermal dysplasia type IV, sourced from HPO and Orphanet clinical annotations.

MicrocephalyShort chinHemangiomaHemiparesisIntracranial hemorrhageNevusFocal-onset seizureAbnormal epidermal morphologyFragmented elastic fibers in the dermisAbnormal mast cell morphologyScarringAbnormal cheek morphologyAbnormal blistering of the skinAbnormal buccal mucosa morphologyCleft palateCleft upper lipHydrocephalus

Classification & Codes

Orphanet Code

ORPHA:398189

focal facial dermal dysplasia type IV

Orphanet	`ORPHA:398189`
Treatments	0 drug(s)
Symptoms on record	17 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO