macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
ORPHA: 487796
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 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal facial shapeBrain imaging abnormalityAbnormality of the genitourinary systemAbnormal sternum morphologyAbnormality of the endocrine systemIntellectual disabilityAbnormal heart morphologyThrombocytopeniaHypoplasia of the corpus callosumVentriculomegalyAbnormal periventricular white matter morphologyScoliosisRecurrent infectionsPostnatal growth retardationIncreased mean platelet volumeInguinal herniaHypospadiasUnilateral renal agenesisHydronephrosisWide mouthThin upper lip vermilionMicrocephalyHypertelorismSmooth philtrumShort philtrumNarrow foreheadLong philtrumPosteriorly rotated earsHearing impairmentBulbous noseWide nasal bridgeFlared nostrilsWebbed neckStrabismusDownslanted palpebral fissuresPtosisExotropiaUpslanted palpebral fissureOptic atrophySynophrysWidely spaced teethDental malocclusionAbnormality of the skeletal systemLymphedemaTapered fingerSeizureGlobal developmental delayCerebellar atrophyDandy-Walker malformationAbsent speechFlexion contracturePatent ductus arteriosusOverlapping toePoor speechHighly arched eyebrowDownturned corners of mouthImmunodeficiencyNevusTotal anomalous pulmonary venous returnCerebellar dysplasiaEversion of lateral third of lower eyelidsReduced visual acuityFloppy infantProximal placement of thumbTented upper lip vermilionProminent foreheadMidface retrusionCamptodactylyClinodactylySparse eyebrowAbnormality of the lymphatic system
Classification & Codes
Orphanet Code
ORPHA:487796macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
| Orphanet | ORPHA:487796 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO