acrorenal syndrome

Term ID

DOID:0060347

Synonyms

Definition

A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. https://www.ncbi.nlm.nih.gov/pubmed/26019842

References

• MESH:C563159
• MIM:102520
• MIM:201310
• SNOMEDCT_US_2023_03_01:720458005
• UMLS_CUI:C3495490

Ontology

Human Disease   ( DOID:0060347 )