Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis is a rare genetic disorder characterized by skeletal abnormalities, facial malformations, and respiratory and digestive problems. It is caused by mutations in the FGFR2 gene, which is involved in the development of bones and other tissues. Affected individuals may have malformed or missing bones in the skull, face, and limbs, as well as malformed or missing ribs. They may also have respiratory problems, such as tracheal stenosis, and digestive problems, such as malrotation of the intestines. Other features may include hearing loss, eye abnormalities, and heart defects.

Common symptoms of Antley-Bixler Syndrome without genital anomaly or disorder of steroidogenesis include:

-Craniofacial abnormalities, such as a prominent forehead, a flat midface, a small lower jaw, and a wide nasal bridge

-Skeletal abnormalities, such as joint dislocations, clubfoot, and scoliosis

-Cardiac defects, such as ventricular septal defects and patent ductus arteriosus

-Respiratory problems, such as tracheomalacia and laryngomalacia

-Gastrointestinal problems, such as malrotation and hiatal hernia

-Neurological problems, such as Seizures and developmental delays

-Kidney and urinary tract abnormalities, such as hydronephrosis and vesicoureter

The exact cause of Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis is unknown. However, it is believed to be caused by a mutation in one of several genes, including the FGFR2, FGFR3, and POR genes. Mutations in these genes can lead to abnormal development of the bones, joints, and other tissues in the body.

1. Surgery: Surgery is often necessary to correct the physical abnormalities associated with Antley-Bixler syndrome. This may include reconstructive surgery to correct skeletal deformities, such as craniosynostosis, and orthopedic surgery to correct joint and limb deformities.

2. Physical Therapy: Physical therapy can help improve strength, flexibility, and range of motion in affected joints and limbs.

3. Occupational Therapy: Occupational therapy can help improve fine motor skills and coordination.

4. Speech Therapy: Speech therapy can help improve communication skills.

5. Nutritional Therapy: Nutritional therapy can help ensure that the patient is getting the proper nutrition to support growth and development.

6. Medications: Medications may be prescribed to help manage symptoms such as pain, seizures, and respiratory problems.

1. Mutation in the P450 oxidoreductase (POR) gene
2. Maternal exposure to certain medications, such as valproic acid
3. Maternal diabetes
4. Maternal obesity
5. Maternal advanced age
6. Family history of Antley-Bixler syndrome

At this time, there is no known cure for Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis. However, there are medications and treatments available to help manage the symptoms of the condition. These include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with pain, breathing, and other symptoms.