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Lowry–MacLean syndrome

MeSH: C537037ORPHA: 2409

Contents

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

Overview

Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral 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 Lowry–MacLean syndrome, sourced from HPO and Orphanet clinical annotations.

Aplasia/Hypoplasia of the corpus callosumSevere global developmental delayAbnormal cardiovascular system morphologyInguinal herniaHypospadiasAbnormality of the genital systemSmall anterior fontanelleHydrocephalusTrigonocephalyRetrognathiaCleft palateMicrocephalyLow-set earsConvex nasal ridgeDownslanted palpebral fissuresProptosisDelayed eruption of primary teethCongenital diaphragmatic herniaDevelopmental glaucomaCraniosynostosisGrowth delayIntrauterine growth retardationAbnormality of the abdominal organsHypoplasia of the maxillaMicrognathiaHigh foreheadChoanal atresiaMegalocorneaVisual lossExotropiaBlue scleraeOsteopeniaOsteoporosisSingle transverse palmar creaseHemiparesisCoarctation of aortaPyloric stenosisHigh, narrow palateDownturned corners of mouthShort nasal bridgeShort noseCraniofacial dysostosisGeneralized hypertrichosisMidgut malrotationWidely patent coronal sutureAtrioventricular canal defectCorneal opacityBilateral cryptorchidismTalon cuspDermoid cystAbnormality of the supraorbital ridgesSeizure

Classification & Codes

MeSH Code

C537037

Orphanet Code

ORPHA:2409
Lowry–MacLean syndrome
MeSHC537037
OrphanetORPHA:2409
Treatments0 drug(s)
Symptoms on record52 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO