Lenz–Majewski syndrome
MeSH: C537115ORPHA: 2658
Overview
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis
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 Lenz–Majewski syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityLarge fontanellesMacrocephalyDelayed cranial suture closureMandibular prognathiaHypertelorismBroad foreheadMacrotiaChoanal atresiaAbnormal dental enamel morphologyAbnormal metaphysis morphologyBrachydactylyIntellectual disabilityGlobal developmental delaySpecific learning disabilityRedundant skinThickened calvariaDelayed skeletal maturationAbnormal cortical bone morphologySevere short statureShort palmCranial hyperostosisFacial hyperostosisFinger syndactylyAplastic claviclePrematurely aged appearanceAplasia/Hypoplasia of the skinIncreased bone mineral densityOsteopetrosisInguinal herniaCryptorchidismAbnormal penis morphologyEpispadiasHypospadiasWide mouthAbnormal nasolacrimal system morphologyAbnormal finger morphologyElbow ankylosisAbnormal metacarpal morphologyFacial palsyThick vermilion borderFemoral herniaHypogonadismCleft palateSubmucous cleft hard palateBifid uvulaHydrocephalusHypotoniaAgenesis of corpus callosumAbsent septum pellucidumLimitation of joint mobilityHypoplastic fingernailHyperconvex fingernailsScoliosisHigh, narrow palateKyphosisExternal genital hypoplasia
Classification & Codes
MeSH Code
C537115Orphanet Code
ORPHA:2658Lenz–Majewski syndrome
| MeSH | C537115 |
| Orphanet | ORPHA:2658 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO