Richieri Costa-Pereira syndrome
MeSH: C535677ORPHA: 3102
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 Richieri Costa-Pereira syndrome, sourced from HPO and Orphanet clinical annotations.
MicroretrognathiaAbnormal pinna morphologyTalipes equinovarusAgenesis of mandibular central incisorAplasia/Hypoplasia of the thumbShort halluxPierre-Robin sequenceAgenesis of maxillary lateral incisorSmall thenar eminenceHoarse voiceNeonatal respiratory distressHypoplasia of the radiusFibular hypoplasiaClinodactyly of the 5th fingerShort statureMesomelic leg shorteningMesomelic arm shorteningShort tibiaAirway obstructionFeeding difficulties in infancyShort 5th fingerCleft mandibleHypoplasia of the calcaneusAgenesis of mandibular lateral incisorBifid uvulaSpecific learning disabilityAbnormal aryepiglottic fold morphologyAplasia/Hypoplasia of the EpiglottisAgenesis of premolar
Classification & Codes
MeSH Code
C535677Orphanet Code
ORPHA:3102Richieri Costa-Pereira syndrome
| MeSH | C535677 |
| Orphanet | ORPHA:3102 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO