OrphanDrug
OrphanDrug
Pharma Knowledge Base

McKusick–Kaufman syndrome

ICD-10: Q87.8MeSH: C538159ORPHA: 589905

Contents

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

Overview

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

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 McKusick–Kaufman syndrome, sourced from HPO and Orphanet clinical annotations.

MacrotiaIntellectual disabilityNeurodevelopmental delayThin vermilion borderHypertelorismLong philtrumHigh foreheadBroad nasal tipAnteverted naresAbnormality of refractionHypermetropiaSynophrysCafe-au-lait spotTapered fingerHypotoniaClinodactyly of the 5th fingerIncreased body weightAttention deficit hyperactivity disorderFeeding difficulties in infancyFatigueImpulsivityCryptorchidismEpicanthusRecurrent otitis mediaStrabismusPtosisUpslanted palpebral fissureSeizureGait disturbanceNeonatal hypotoniaConstipationGastroesophageal refluxSleep disturbanceHand tremorGeneralized joint hypermobilityRecurrent upper respiratory tract infections2-3 toe syndactylyAlmond-shaped palpebral fissureObesityBlindnessKidney failureHematuriaConduct disorderGlomerulonephritisBody dysmorphic disorderDisability affecting intellectual abilitiesShort statureHearing loss

Classification & Codes

ICD-10 Code

Q87.8

MeSH Code

C538159

Orphanet Code

ORPHA:589905
McKusick–Kaufman syndrome
ICD-10Q87.8
MeSHC538159
OrphanetORPHA:589905
Treatments0 drug(s)
Symptoms on record48 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO