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

C535677

Orphanet Code

ORPHA:3102
Richieri Costa-Pereira syndrome
MeSHC535677
OrphanetORPHA:3102
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO