Antley-Bixler syndrome (Q93976): Difference between revisions
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Síndrome de Antley-Bixler é um transtorno muito raro caracterizado por craniossinostose com hipoplasia da face média, sinostose radioumeral, arqueamento femoral e contraturas articulares. Duas formas geneticamente distintas são observadas: a síndrome de Antley-Bixler tipo 1 está associada a mutações heterozigotas no gene FGFR2 (10q26) sem comprometimento da esteroidogênese, enquanto o Antley-Bixler tipo 2 está associado a mutações homozigóticas no gene POR (7q11.2), que codifica o citocromo P450 oxidorredutase (POR), que desempenha um papel direto na esteroidogênese. O Antley-Bixler do tipo 2 pode, portanto, ser acompanhado de ambiguidade genital. | |||
| description / en | description / en | ||
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis, whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene (7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity. | |||
Revision as of 09:05, 16 August 2026
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis, whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene (7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2027710139 |
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| English | Antley-Bixler syndrome |
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis, whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene (7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity. |
