MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcraniosynostosis syndrome, autosomal recessive (MONDO:0011679)
Parent Node:
expandgenetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (MONDO:0043007)
Parent Node:
expandsyndromic craniosynostosis (MONDO:0015338)
..Starting node
..expandAntley-Bixler syndrome ()

       Child Nodes:
........expandAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis ()
........expandAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis ()



 Sister Nodes: 
..expandacrocephalopolydactyly ()
..expandacrocephalosyndactyly ()
..expandAntley-Bixler syndrome ()
..expandautosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome ()
..expandBaller-Gerold syndrome ()
..expandBeare-Stevenson cutis gyrata syndrome ()
..expandc syndrome ()
..expandcardiocranial syndrome, Pfeiffer type ()
..expandcloverleaf skull-asphyxiating thoracic dysplasia syndrome ()
..expandcloverleaf skull-multiple congenital anomalies syndrome ()
..expandcranioectodermal dysplasia ()
..expandcraniomicromelic syndrome ()
..expandcraniosynostosis and dental anomalies ()
..expandcraniosynostosis, Boston type ()
..expandcraniosynostosis, Herrmann-Opitz type ()
..expandcraniosynostosis, Philadelphia type ()
..expandcraniosynostosis-anal anomalies-porokeratosis syndrome ()
..expandcraniosynostosis-cataract syndrome ()
..expandcraniosynostosis-fibular aplasia syndrome ()
..expandcraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ()
..expandcraniosynostosis-intracranial calcifications syndrome ()
..expandcraniotelencephalic dysplasia ()
..expandCrouzon syndrome ()
..expandCrouzon syndrome-acanthosis nigricans syndrome ()
..expandcurry-Jones syndrome ()
..expandfamilial scaphocephaly syndrome ()
..expandholoprosencephaly-craniosynostosis syndrome ()
..expandHunter-McAlpine craniosynostosis ()
..expandlethal occipital encephalocele-skeletal dysplasia syndrome ()
..expandLowry-MacLean syndrome ()
..expandmetopic ridging-ptosis-facial dysmorphism syndrome ()
..expandMuenke syndrome ()
..expandosteosclerosis-developmental delay-craniosynostosis syndrome ()
..expandpseudoaminopterin syndrome ()
..expandscarf syndrome ()
..expandShprintzen-Goldberg syndrome ()
..expandSummitt syndrome ()
..expandtrigonocephaly-broad thumbs syndrome ()
..expandtrigonocephaly-short stature-developmental delay syndrome ()
..expandX-linked intellectual disability-plagiocephaly syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8803
Name:Antley-Bixler syndrome
Definition:Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
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Synonyms:Antley Bixler syndrome; multisynostotic osteodysgenesis with long bone fractures; osteodysgenesis, multisynostotic with fractures; osteodysgenesis, multisynostotic, with fractures; trapezoidocephaly synostosis syndrome; trapezoidocephaly-synostosis syndrome; trapezoidocephaly-synostosis syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal