acrofacial dysostosis Rodriguez type

MeSH: C538183ORPHA: 1788

Overview

Human disease

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 acrofacial dysostosis Rodriguez type, sourced from HPO and Orphanet clinical annotations.

Malar flatteningMicroretrognathiaProminent nasal bridgeMicrotiaSprengel anomalyArrhinencephalyAqueductal stenosisAbnormal pelvic girdle bone morphologyRadioulnar synostosisFibular hypoplasiaAplasia/Hypoplasia of the ulnaAplasia/Hypoplasia of the radiusAbnormal cardiovascular system morphologyAbnormality of the uterusIntrauterine growth retardationTalipes equinovarusAbnormal form of the vertebral bodiesFinger syndactylyRenal hypoplasia/aplasiaFinger aplasia

Classification & Codes

MeSH Code

C538183

Orphanet Code

ORPHA:1788
acrofacial dysostosis Rodriguez type
MeSHC538183
OrphanetORPHA:1788
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO