Steinfeld syndrome
MeSH: C566655ORPHA: 3186
Overview
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder
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 Steinfeld syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormality of the outer earAtresia of the external auditory canalHoloprosencephalyAplasia of the noseOrofacial cleftMicrophthalmiaHypoplasia of the radiusHypoplasia of the ulnaVertebral segmentation defectAplasia/Hypoplasia of the thumbAbsent gallbladderMedian cleft upper lipHearing impairmentHypotelorismIris colobomaMissing ribsOmphaloceleTetralogy of FallotFoot polydactylyAbnormality of neuronal migrationOverriding aortaRenal hypoplasia/aplasiaPhocomeliaCyclopiaAbnormal localization of kidneyAbnormal humerus morphology
Classification & Codes
MeSH Code
C566655Orphanet Code
ORPHA:3186Steinfeld syndrome
| MeSH | C566655 |
| Orphanet | ORPHA:3186 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO