Antley-bixler syndrome without genital anomalies or disordered steroidogenesis

Preferred Label : Antley-bixler syndrome without genital anomalies or disordered steroidogenesis;

Symbol : ABS2;

CISMeF acronym : ABS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteodysgenesis, multisynostotic, with fractures; Trapezoidocephaly-synostosis syndrome; Multisynostotic osteodysgenesis with long bone fractures;

Description : The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0002);

Prefixed ID : #207410;

Details

Origin ID

207410;

UMLS CUI

C2936791;

Currated CISMeF NLP mapping
- Antley Bixler syndrome [Disease (Nov.)]
- Antley-Bixler Syndrome [MeSH concept]
- Antley-Bixler syndrome [DO Concept]
- Antley-Bixler syndrome [ICD-11 More detail]
- Antley-Bixler syndrome [MedDRA Preferred Term]
- Antley-Bixler syndrome [ORDO Disease]
- Antley-Bixler syndrome (disorder) [SNOMED CT concept]
- Antley-Bixler syndrome phenotype [MeSH Descriptor]
- antley-bixler syndrome [SNOMED Notion]
DO Cross reference
- Antley-Bixler syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Abnormal renal morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Arachnodactyly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Camptodactyly [HPO term]
- Choanal atresia [HPO term]
- Choanal atresia or stenosis [HPO term]
- Choanal stenosis [HPO term]
- Congenital vertical talus [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- Depressed nasal bridge [HPO term]
- Dysplastic ears [HPO term]
- Femoral bowing [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Fused labia minora [HPO term]
- Humeroradial synostosis [HPO term]
- Hydrocephalus [HPO term]
- Hypoplastic labia majora [HPO term]
- Intellectual disability [HPO term]
- Kidney malformation [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow pelvis bone [HPO term]
- Proptosis [HPO term]
- Rocker bottom foot [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Ulnar bowing [HPO term]
- Upper airway obstruction [HPO term]
- Vaginal atresia [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Antley-Bixler syndrome [ORDO Disease]
See also inter- (CISMeF)
- cytochrome P450 oxidoreductase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antley-Bixler syndrome (disorder) [SNOMED CT concept]
- Antley-Bixler syndrome, autosomal dominant [MeSH concept]
- antley-bixler syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis [ORDO Disease]

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