The topic Antley-Bixler Syndrome with Disordered Steroidogenesis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Cytochrome P450 Oxidoreductase Deficiency Disorder.

Quick Summary:

• Cytochrome P450 Oxidoreductase Deficiency Disorder is a rare genetic disorder. It involves a deficiency in several steroid hormones of the body. The disorder is inherited in an autosomal recessive manner
• Mutations in the POR gene cause Cytochrome P450 Oxidoreductase Deficiency Disorder. The POR gene codes for cytochrome P450 oxidoreductase enzyme, which is involved in the synthesis of steroid hormones and cholesterol, as well as in the breakdown of retinoic acid. A mutation in the POR gene can cause an aberrant or inactive enzyme, leading to the spectrum of symptoms observed in affected individuals
• Another gene known as FGFR2 gene may also be involved in the disorder. Mutations in this gene can cause severe skeletal abnormalities. Individuals with both POR and FGFR2 gene mutations may be considered to have “Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis”
• The symptoms of Cytochrome P450 Oxidoreductase Deficiency Disorder can include abnormalities in the bones of the skull, fingers, toes, chest, arms and legs, a flattening of face, low-set ears, breathing difficulties, genital abnormalities, infertility, emotional sensitivity, reduced mental acuity, and developmental delays
• A diagnosis of Cytochrome P450 Oxidoreductase Deficiency Disorder can be accomplished either before or after birth. Prenatal diagnosis may involve checking the mother’s serum for certain hormones and genetic testing of fetal cells. After birth, a diagnosis of the condition can be made through physical examination, evaluation of family history of the condition, and through assessment of symptoms including various tests and imaging studies
• Some complications associated with Cytochrome P450 Oxidoreductase Deficiency Disorder can include respiratory distress, developmental delays, cognitive impairment, anxiety, decreased range of movement, and infection following some surgical procedures
• There is currently no treatment available to cure Cytochrome P450 Oxidoreductase Deficiency Disorder. The treatment options are only tailored to address the individual symptoms. Hormone injections and replacement, surgery, physiotherapy, special education, and occupational therapy, are some of the symptomatic treatment options for those with this deficiency disorder
• The prognosis of the disease is guarded for infants, since they can develop respiratory complications. However, the outcome is reported to improve once the infants are able to combat complications of the condition successfully. Many individuals with Cytochrome P450 Oxidoreductase Deficiency Disorder may experience developmental delays

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