OrphanDrug
OrphanDrug
Pharma Knowledge Base

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

ORPHA: 363523

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Broad nasal tipCarious teethDelayed speech and language developmentHypohidrosisPalmoplantar hyperkeratosisIntellectual disabilityRecurrent feverRecurrent respiratory infectionsSparse lateral eyebrowEnamel hypoplasiaDelayed early-childhood social milestone developmentThick vermilion borderSecondary microcephalyHepatitisMild microcephaly

Classification & Codes

Orphanet Code

ORPHA:363523
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphanetORPHA:363523
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO