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Pallister–Killian syndrome

ICD-10: Q99.8MeSH: C538105ORPHA: 884

Contents

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

Overview

rare 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 Pallister–Killian syndrome, sourced from HPO and Orphanet clinical annotations.

Thick upper lip vermilionThin upper lip vermilionEverted lower lip vermilionLong philtrumShort neckPtosisDelayed eruption of teethHypohidrosisHypotoniaReduced tendon reflexesDownturned corners of mouthDelayed skeletal maturationShort statureCachexiaSparse hairSevere intellectual disabilitySparse eyebrowCoarse facial featuresHypertelorismAnteverted naresTelecanthusUpslanted palpebral fissureFrontal bossingShort noseProminent foreheadStrabismusAnal atresiaAbnormal soft palate morphologyJoint hypermobilityEpilepsyPolydactylyDiaphragmatic herniaDevelopmental language disorder

Classification & Codes

ICD-10 Code

Q99.8

MeSH Code

C538105

Orphanet Code

ORPHA:884
Pallister–Killian syndrome
ICD-10Q99.8
MeSHC538105
OrphanetORPHA:884
Treatments0 drug(s)
Symptoms on record33 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO