Antley-Bixler Syndrome

Symptoms of the following disorders can be similar to those of Antley-Bixler syndrome. Comparisons may be useful for a diagnosis?: Differential diagnosis is a list of possible conditions that may explain symptoms. সহজ বাংলা: একই লক্ষণের সম্ভাব্য রোগের তালিকা।" data-rx-term="differential diagnosis" data-rx-definition="Differential diagnosis is a list of possible conditions that may explain symptoms. সহজ বাংলা: একই লক্ষণের সম্ভাব্য রোগের তালিকা।">differential diagnosis?:

Primary craniosynostosis is a rare disorder of the skull. It occurs when there is an early closure of the bones (sutures) in the skull resulting in an abnormally shaped head. The severity of the symptoms and shape of the skull depends on which skull bones close early. In this condition, the head may be larger than normal due to the accumulation of fluid (hydrocephaly) in the skull. (For more information on this disorder, choose “primary craniosynostosis” as your search term in the Rare Disease Database.)

Camptomelic syndrome is a rare congenital? skeletal disorder inherited in an autosomal recessive pattern. It is characterized by short stature and structural defects in the long bones of the legs. The bones of the shoulder and the pelvis can also have structural defects. Eleven pairs of ribs instead of the usual twelve may also be present. Respiratory distress due to the underdevelopment of the rib cage is the most serious complication of this condition. (For more information on this disorder, choose “camptomelic” as your search term in the Rare Disease Database.)

Acrocephalosyndactyly syndromes are rare disorders that are characterized by a pointed head caused by the early closure of the bones in the skull. Other physical characteristics may include webbed fingers and other structural changes in the skeleton. Some characteristics of these syndromes are similar to those in Antley-Bixler syndrome.

Apert syndrome is a rare inherited disorder characterized by intellectual disability along with malformations of the head, fingers, and toes. Apert syndrome is also known as acrocephalosyndactyly type I. The head has a long narrow appearance with a pointed top (acrocephaly or oxycephaly) and some fingers may be webbed (syndactyly). Other features may include widely spaced eyes (hypertelorism), a bulging appearance to the eyeballs (exophthalmos), and/or a high pointed palate. (For more information on this disorder, choose “Apert” as your search term in the Rare Disease Database.)

Crouzon disease is a rare inherited disorder characterized by the premature closure of the bones of the skull (craniosynostosis) accompanied by unusual facial features, developmental delay, intellectual disability, and disturbances in vision and hearing. This disorder is also known as acrocephalosyndactyly type II. Other features of this disorder may include widely spaced eyes (hypertelorism), a bulging appearance to the eyeballs (exophthalmos), crossed eyes (strabismus), and a beaked nose with a deviated septum, and/or underdevelopment of the jaw (hypoplastic maxilla). Spinal anomalies may also be present. (For more information on this disorder, choose “Crouzon” as your search term in the Rare Disease Database.)

Saether-Chotzen syndrome is a rare congenital? disorder thought to be inherited in an autosomal dominant pattern. This disorder is characterized by various craniofacial and skeletal abnormalities. It is also known as acrocephalosyndactyly type III. Features include a small head (microcephaly), premature closure of the bones of the skull (craniosynostosis), mildly fused webbed fingers and/or toes (syndactyly), and droopy eyelids, widely spaced eyes, mild to moderate intellectual disability, and facial abnormalities. (For more information on this disorder, choose “Saether-Chotzen” as your search term in the Rare Disease Database.)

Pfeiffer syndrome is a rare disorder inherited in an autosomal dominant pattern that primarily affects the bones. This disorder is also known as acrocephalosyndactyly type V. Infants with Pfeiffer syndrome usually have a short, pointed head (acrobrachycephaly) and other deformities of the face, jaws, and teeth. Webbed fingers or toes (syndactyly) and other abnormalities of the thumbs or big toes may also occur. Symptoms can vary from mild to severe. (For more information on this disorder, choose “Pfeiffer” as your search term in the Rare Disease Database.)

Carpenter syndrome is a rare inherited disorder characterized by abnormalities of the head, hands, and genitals. Intellectual disability is also present in children with this disorder. This disorder is also known as acrocephalopolysyndactyly type II. Carpenter syndrome is a form of craniosynostosis, marked by the premature closure of the bones of the skull resulting in an abnormally shaped head. Other features may include down-slanting eyes, a flattened nose, low-set eyes, and a usually small jaw. Obesity and heart anomalies may also occur. (For more information on this disorder, choose “Carpenter” as your search term in the Rare Disease Database.)

Sakati syndrome (also known as acrocephalopolysyndactyly type III) is a rare inherited disorder characterized by an abnormally shaped head and abnormalities of the fingers. Other features include unusually short legs, bowing of the bone that extends from the hips to the knees (femur), underdevelopment of the ears, lack of scalp hair (alopecia), unusually dry skin, failure of the testicles to descend into the scrotum (cryptorchidism), an abnormally small penis (microphallus), and/or congenital? heart disease.

Goodman syndrome is a rare inherited disorder of infancy characterized by abnormalities of the head, hands, and genitals. This disorder is also known as acrocephalopolysyndactyly type IV and is a mild form of Carpenter syndrome. The head is typically abnormally shaped and the eyes may be low-set. Intellectual disability does not occur and hand deformities are less pronounced than in Carpenter syndrome.

BThe 3GAT3-related disorder is a rare inherited disorder of infancy characterized by many of the same symptoms and signs as Antley-Bixler syndrome. However, this condition is associated with multiple neonatal fractures and cardiovascular abnormalities which are less common in ABS.