OrphanDrug
OrphanDrug
Pharma Knowledge Base

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

MeSH: C565440ORPHA: 1816

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 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasDecreased fertilityDepressed nasal ridgeAbnormal eyebrow morphologyHypodontiaDelayed eruption of teethNephrolithiasisDelayed pubertyPalmoplantar keratodermaIntellectual disabilityGeneralized hirsutismShort statureIrregular hyperpigmentationGeneralized hypopigmentationHypoplasia of penisShagreen patch

Classification & Codes

MeSH Code

C565440

Orphanet Code

ORPHA:1816
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
MeSHC565440
OrphanetORPHA:1816
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO