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Disease Profile

Antley Bixler syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Trapezoidocephaly synostosis syndrome; Multisynostotic osteodysgenesis with long bone fractures; Osteodysgenesis, multisynostotic with fractures

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.[1][2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Abnormality of the ribs
Rib abnormalities
0000772
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Brachycephaly
Short and broad skull
0000248
Camptodactyly of finger
Permanent flexion of the finger
0100490
Delayed cranial suture closure
0000270
Elbow ankylosis
0003070
Femoral bowing
Bowed thighbone
0002980
Frontal bossing
0002007
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone

[ more ]

0010669
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Low-set, posteriorly rotated ears
0000368
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow pelvis bone
0003275
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
30%-79% of people have these symptoms
Abnormal renal morphology
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities

[ more ]

0012210
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Craniosynostosis
0001363
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
5%-29% of people have these symptoms
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Cleft palate
Cleft roof of mouth
0000175
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Long philtrum
0000343
Narrow mouth
Small mouth
0000160
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Talipes
0001883
Turricephaly
Tall shaped skull
Tower skull shape

[ more ]

0000262
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
Percent of people who have these symptoms is not available through HPO
Abnormality of the endocrine system
0000818
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Anteriorly placed anus
0001545
Arnold-Chiari malformation
0002308
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Bifid scrotum
Cleft of scrotum
0000048
Bronchomalacia
0002780
Camptodactyly
Permanent flexion of the finger or toe
0012385
Carpal synostosis
0009702
Choanal stenosis
Narrowing of the rear opening of the nasal cavity
0000452
Chordee
0000041
Clitoral hypertrophy
Enlarged clitoris
0008665
Cloverleaf skull
0002676
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Coronal craniosynostosis
0004440
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased circulating progesterone
Decreased serum progesterone
0008233
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Elevated circulating 17-hydroxyprogesterone
0031213
Flexion contracture
Flexed joint that cannot be straightened
0001371
Fused labia minora
Fused inner lips
0000063
Hemivertebrae
Missing part of vertebrae
0002937
Horseshoe kidney
Horseshoe kidneys
0000085
Humeroradial synostosis
Fusion of upper and lower arm bones
0003041
Hydrocephalus
Too much cerebrospinal fluid in the brain

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

    In-Depth Information

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      Antley-Bixler Syndrome With Genital Anomalies and Disordered Steriodogenesis
      Antley-Bixler Syndrome Without Genital Anomalies and Disordered Steriodogenesis
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Antley Bixler syndrome. Click on the link to view a sample search on this topic.

      References

      1. Antley Bixler Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/antley-bixler-syndrome/.
      2. Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL. Antley-Bixler syndrome: surgical management of ambiguous genitalia a case report. Med Princ Pract. 2014; 23(4):384-386.
      3. Lahiri S, Ghoshal B, Nandi D. A case of antley-bixler syndrome. J Clin Neonatol. January 2012; 1(1):46-48.

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