congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
MeSH: C537558ORPHA: 2772
Overview
or a few hours after birth. The mode of inheritance appears to be autosomal recessive.
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 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyCataractIntrauterine growth retardationRecurrent fracturesMicromeliaDisproportionate short-limb short statureHypertelorismBlue scleraeAbnormal rib morphologySingle umbilical arteryVentriculomegalyAbnormality of neuronal migrationDecreased calvarial ossificationCryptorchidismAmbiguous genitaliaVentricular septal defectHypoplastic left ventricleAplasia/Hypoplasia of the cerebellumHypoplasia of penisJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
C537558Orphanet Code
ORPHA:2772congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
| MeSH | C537558 |
| Orphanet | ORPHA:2772 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO