Antley–Bixler syndrome is a rare, severe
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
congenital disorder
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Presentation
Antley–Bixler syndrome presents itself at birth or
prenatal
Prenatal development () includes the development of the embryo and of the fetus during a viviparous animal's gestation. Prenatal development starts with fertilization, in the germinal stage of embryonic development, and continues in fetal devel ...
ly.
[ Features of the disorder include ]brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, ...
(flat forehead), craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
(complete skull-joint closure) of both coronal and lambdoid suture
The lambdoid suture (or lambdoidal suture) is a dense, fibrous connective tissue joint on the posterior aspect of the skull that connects the parietal bones with the occipital bone. It is continuous with the occipitomastoid suture.
Structure
Th ...
s, facial hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.ulna
The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of t ...
(forearm bone) and femur
The femur (; ), or thigh bone, is the proximal bone of the hindlimb in tetrapod vertebrates. The head of the femur articulates with the acetabulum in the pelvic bone forming the hip joint, while the distal part of the femur articulates with ...
(thigh bone), synostosis
Synostosis (plural: synostoses) is fusion of two or more bones. It can be normal in puberty, fusion of the epiphyseal plate to become the epiphyseal line, or abnormal. When synostosis is abnormal it is a type of dysostosis. Examples of synostoses ...
of the radius
In classical geometry, a radius ( : radii) of a circle or sphere is any of the line segments from its center to its perimeter, and in more modern usage, it is also their length. The name comes from the latin ''radius'', meaning ray but also the ...
(forearm bone), humerus
The humerus (; ) is a long bone in the arm that runs from the shoulder to the elbow. It connects the scapula and the two bones of the lower arm, the radius and ulna, and consists of three sections. The humeral upper extremity consists of a roun ...
(upper arm bone) and trapezoid
A quadrilateral with at least one pair of parallel sides is called a trapezoid () in American and Canadian English. In British and other forms of English, it is called a trapezium ().
A trapezoid is necessarily a Convex polygon, convex quadri ...
(hand bone); camptodactyly
Camptodactyly is a medical condition that causes one or more fingers or toes to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.
Camptodactyly can be caused by a genetic disorder. In that case, it i ...
(fused interphalangeal joints Interphalangeal joint may refer to:
*Interphalangeal articulations of hand
The interphalangeal joints of the hand are the hinge joints between the phalanges of the fingers that provide flexion towards the palm of the hand.
There are two sets in ...
in the fingers), thin ilial wings (outer pelvic plate) and renal
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood ...
malformations.[
Other symptoms, such as ]cardiac
The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to t ...
malformations, proptotic exophthalmos (bulging eyes), arachnodactyly
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...
(spider-like fingers) as well as nasal
Nasal is an adjective referring to the nose, part of human or animal anatomy. It may also be shorthand for the following uses in combination:
* With reference to the human nose:
** Nasal administration, a method of pharmaceutical drug delivery
** ...
, anal
Anal may refer to:
Related to the anus
*Related to the anus of animals:
** Anal fin, in fish anatomy
** Anal vein, in insect anatomy
** Anal scale, in reptile anatomy
*Related to the human anus:
** Anal sex, a type of sexual activity involvin ...
and vaginal atresia
Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal sep ...
(occlusion) have been reported.
Pathophysiology
There are two distinct gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
tic mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
s associated with the Antley–Bixler syndrome phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
, which suggests the disorder may be genetically heterogeneous.
Antley–Bixler syndrome is inherited in an autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
pattern, which means the defective gene is located on an autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
, and two copies of the gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but are usually not affected by the disorder.
Diagnosis
The diagnosis of Antley–Bixler syndrome is usually made after birth (postnatally) based upon a thorough clinical evaluation and characteristic physical findings. Other imaging procedures and genetic testing may also be conducted to diagnose the disorder.
In some children, a diagnosis of Antley–Bixler syndrome may be suggested before birth (prenatally) based upon tests such as ultrasound. Ultrasound allows us to generate an image of the developing fetus, which may then reveal characteristic findings that are associated with the disorder. If there is a known family history of the condition, targeted genetic testing is available for patient families.
Treatment
The treatment of Antley–Bixler syndrome is directed toward the specific symptoms that are seen in each individual. Such treatment requires the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan the treatment for a child with this condition. These professionals may include pediatricians, surgeons, physicians who specialize in disorders of specific body areas and organs. In individuals with Antley–Bixler syndrome, treatment typically includes surgery. The surgical procedures performed will depend upon the severity of the skeletal problems and its associated symptoms. It is possible that multiple surgeries will be needed in order to treat the malformations present.
There is no cure for the condition. All treatment is supportive and aimed at managing symptoms. However, early intervention may be important in ensuring that affected children reach their potential. For example, physical therapy is typically recommended to help improve the range of movement at certain joint contractures. Other therapies that may aide in managing symptoms include occupational therapy and speech therapy.
Because this is a genetic condition, individuals with Antley–Bixler syndrome and their families would benefit from meeting with a genetic counselor. Genetic counselors are professionals who have specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health.
Eponym
Antley–Bixler syndrome is named after Drs. Ray M. Antley (1937–2014) and David Bixler (1929–2005), who first described the disorder in a journal report from 1975.
See also
* Cytochrome P450 oxidoreductase deficiency
Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease and inborn error of metabolism caused by deficiency of cytochrome P450 oxidoreductase (POR). POR is a 2- flavin protein that is responsible for the transfer of electrons from NADP ...
* Crouzon syndrome
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial ...
* Jackson–Weiss syndrome
Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and fac ...
* Pfeiffer syndrome
Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such ...
References
:11. https://rarediseases.org/rare-diseases/antley-bixler-syndrome/
Further reading
GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes
GeneReviews/NCBI/NIH/UW entry on Cytochrome P450 Oxidoreductase Deficiency
External links
{{DEFAULTSORT:Antley-Bixler syndrome
Cell surface receptor deficiencies
Autosomal recessive disorders
Rare diseases
Syndromes affecting the heart
Cholesterol and steroid metabolism disorders
Syndromes affecting the eye
Syndromes with craniofacial abnormalities