Antley-Bixler syndrome (Q93976): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/2027710139
@@ Property / Canonical URI: https://id.who.int/icd/entity/2027710139 / rank @@
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+CID11:ID_2027710139
@@ Property / CURIE: CID11:ID_2027710139 / rank @@
+Normal rank
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+dki-india-ID_2027710139
@@ Property / Canary Token: dki-india-ID_2027710139 / rank @@
+Normal rank
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+Concluído
@@ Property / Verification Status: Concluído / rank @@
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@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-15T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest 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
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.