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Baller-Gerold syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
Uniprot Description An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.
Disease Ontology Description A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
Mondo Term and Equivalent IDs
MONDO:0009039:  Baller-Gerold syndrome
GARD:0001602: 
MESH:C536788: 
Orphanet:1225: 
SCTID:77608001: 
UMLS:C0265308: