Antley-Bixler syndrome

Antley-Bixler syndrome
Overview
A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities.

Antley-Bixler Syndrome
ACD
Asymmetrical Cortical Degeneration Syndromes ...

Antley-Bixler syndrome-like phenotype with disordered steroidogenesis
Antley-Bixler syndrome with disordered steroidogenesis
combined partial deficiency of 17-hydroxylase and 21-hydroxylase
PORD
POR Deficiency ...

Antley-Bixler Syndrome ... decreased range of motion at knees
Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis ... decreased range of motion at knees
Aortic dilatation- joint hypermobility- arterial tortuosity ...

See also: Autosomal recessive, Symptom, Atresia, Fusion, Deficiency