GenTIGSA Gene Database on Rare Genetic Disorders
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Goldenhar Syndrome  
Disease Aliases (39)

Afa syndrome

Acrocephalopolysyndactyly

Acrocephalosyndactyly [apert]

Acromegaloid facial appearance

Acromegaloid facial appearance syndrome

Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence

Craniofacial dysostosis - genital, dental, cardiac anomalies

Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies

Craniofacial dysostosis-genital

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora

Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Cryptophthalmos syndrome

Cyclopia

Dental and eye anomalies-patent ductus arteriosus-normal intelligence

Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome

Fps

Fontaine progeroid syndrome

Fontaine progeroid syndrome; fps

Gcm syndrome

Gcms

Gorlin-chaudhry-moss syndrome

Goldenhar syndrome

Gorlin chaudhry moss syndrome

Oro-facial-digital syndrome

Progeroid syndrome, congenital, petty type

Petty laxova wiedemann syndrome

Petty syndrome

Petty-laxova-wiedemann syndrome

Progeroid syndrome petty type

Robin syndrome

Thick lips and oral mucosa

Whistling face

Cardiac anomalies syndrome

Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora

Dental

Dental and eye anomalies, patent ductus arteriosus, and normal intelligence

Progeroid syndrome congenital petty type

Progeroid syndrome, petty type

Associated Genes (1)
 

NCBI-RefSeq:  SLC25A24   (Solute carrier family 25 member 24)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Goldenhar syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations