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focal facial dermal dysplasia type II

ORPHA: 398173

Contents

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

Overview

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities

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 II, sourced from HPO and Orphanet clinical annotations.

Low-set earsTrichiasisCurved linear dimple below the lower lipDistichiasisBitemporal forceps marksSparse eyebrowSmall earlobeHorizontal nystagmusGeneralized hypertrichosisEctropion of lower eyelidsAbnormal pinna morphologyAbsent earlobeLop ear

Classification & Codes

Orphanet Code

ORPHA:398173
focal facial dermal dysplasia type II
OrphanetORPHA:398173
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO