BOPS
MCID: BHR002
MIFTS: 47
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Bohring-Opitz Syndrome (BOPS)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Bohring-Opitz Syndrome:Characteristics:Orphanet epidemiological data:58
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide); OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
all reported cases have occurred de novo death often occurs in childhood HPO:31
bohring-opitz syndrome:
Clinical modifier death in infancy Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.
Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. Most affected individuals have a normal head shape and size with no brain abnormalities; however, some have abnormal development of the head. Abnormal development can lead to a small head size (microcephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. Structural brain abnormalities can occur with or without head abnormalities. For example, the fluid-filled spaces near the center of the brain (ventricles) may be usually large (ventriculomegaly) or the tissue that connects the left and right halves of the brain (the corpus callosum) can be abnormally thin.
Eye problems that can affect vision also occur in people with Bohring-Opitz syndrome. People with this disorder may have protruding eyes (exophthalmos), eyes that do not point in the same direction (strabismus), widely spaced eyes (hypertelorism), or outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may have severe nearsightedness (high myopia) or abnormalities in the light-sensitive tissue at the back of the eye (the retina) or the nerves that carry information from the eyes to the brain (optic nerves).
Additional facial differences associated with Bohring-Opitz syndrome can include a flat nasal bridge, nostrils that open to the front rather than downward (anteverted nares), a high arch or opening in the roof of the mouth (high arched or cleft palate), a split in the upper lip (cleft lip), a small lower jaw (micrognathia), low-set ears that are rotated backward, a red birthmark (nevus simplex) on the face (usually the forehead), a low frontal hairline often with eyebrows that grow together in the middle (synophrys), and excessive body and facial hair (hirsutism) that increases with age.
Some individuals with Bohring-Opitz syndrome have poor growth before birth (intrauterine growth retardation). During infancy, they grow and gain weight slowly and often have severe feeding difficulties with recurrent vomiting.
People with this condition often have characteristic body positioning, known as Bohring-Opitz syndrome posture. This posture consists of slouching shoulders, bent elbows and wrists, hands positioned with the wrists or all of the fingers angled outward toward the fifth finger (ulnar deviation), with the legs usually extended straight. Affected individuals usually stop exhibiting the Bohring-Opitz syndrome posture as they get older. Other abnormalities include joint deformities (called contractures) that are apparent at birth in the knees, hips, or other joints and abnormal muscle tone. Affected individuals can have recurrent infections and heart, kidney, or genital abnormalities. In rare cases, a childhood form of kidney cancer known as Wilms tumor can develop.
Some individuals with Bohring-Opitz syndrome do not survive past early childhood, while others live into adolescence or early adulthood. The most common causes of death are heart problems, abnormalities of the throat and airways that cause pauses in breathing (obstructive apnea), and lung infections.
MalaCards based summary : Bohring-Opitz Syndrome, also known as bohring syndrome, is related to cornelia de lange syndrome and buschke-ollendorff syndrome, and has symptoms including seizures and ulnar deviation of the wrist. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (ASXL Transcriptional Regulator 1). Affiliated tissues include brain, eye and heart, and related phenotypes are global developmental delay and wide nasal bridge NIH Rare Diseases : 52 Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive , sleep apnea , developmental delay , hypotonia , flexion of the elbows and wrists, excessive hair growth, Wilm's tumor , microcephaly , brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene . The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically. OMIM : 56 Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by Hoischen et al., 2011). See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13. (605039) KEGG : 36 Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:H01008], therefore known as C-like syndrome. Recently, It has been reported that de novo nonsense mutations in ASXL1 cause BOPS. UniProtKB/Swiss-Prot : 73 Bohring-Opitz syndrome: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. Wikipedia : 74 Bohring-Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1... more...
GeneReviews:
NBK481833
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Human phenotypes related to Bohring-Opitz Syndrome:58 31 (show top 50) (show all 93)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:605039UMLS symptoms related to Bohring-Opitz Syndrome:seizures, ulnar deviation of the wrist |
Interventional clinical trials:
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MalaCards organs/tissues related to Bohring-Opitz Syndrome:40
Brain,
Eye,
Heart,
Kidney,
Retina,
Lung,
Skin
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Articles related to Bohring-Opitz Syndrome:(show top 50) (show all 61)
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ClinVar genetic disease variations for Bohring-Opitz Syndrome:6 (show top 50) (show all 126)
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for disease gene expression data for Bohring-Opitz Syndrome.
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Cellular components related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:
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