microcephaly-cardiac defect-lung malsegmentation syndrome
ORPHA: 2516
Overview
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate
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 microcephaly-cardiac defect-lung malsegmentation syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyIntrauterine growth retardationVentricular septal defectAbnormal lung lobationCognitive impairmentRenal agenesisCleft palateMicrognathiaAbnormal periauricular region morphologyUnderdeveloped nasal alaeWebbed neckShort neckBlepharophimosisHypotoniaJoint stiffnessTruncus arteriosusAbnormal aortic morphologyHigh, narrow palatePreauricular pitWide intermamillary distanceBilateral single transverse palmar creasesRenal hypoplasia/aplasiaShort distal phalanx of finger
Classification & Codes
Orphanet Code
ORPHA:2516microcephaly-cardiac defect-lung malsegmentation syndrome
| Orphanet | ORPHA:2516 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO