mosaic trisomy 2

ORPHA: 1723

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 mosaic trisomy 2, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHypertelorismIntrauterine growth retardationOligohydramniosDelayed gross motor developmentPostnatal growth retardationMidface retrusionHerniaCleft palateDolichocephalyMicrophthalmiaPreaxial hand polydactylyAbnormal heart morphologyVentriculomegalyAganglionic megacolonSpina bifidaIntestinal malrotationScoliosisHypoplasia of the radiusHypoplasia of the ulnaNeurodevelopmental delayThin corpus callosumNeural tube defectCleft lip

Classification & Codes

Orphanet Code

ORPHA:1723
mosaic trisomy 2
OrphanetORPHA:1723
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO