Bohring-Opitz Syndrome (BOPS)

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OMIM 56 605039 KEGG 36 H02047 MeSH 43 D003398 ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0796232

Orphanet 58 ORPHA97297 MedGen 41 C0796232 SNOMED-CT via HPO 68 103276001 108367008 125617002 128490007 128602000 128613002 14447001 15188001 16331000 18265008 194021007 197811007 199612005 202281000 203541003 204043002 204142009 22006008 22033007 22066006 224958001 235595009 237836003 246545002 246799009 249321001 249670005 249671009 249729002 249768009 253207002 253251006 253366007 253549006 253789002 254211001 258211005 263681008 271611007 276662009 278849000 28740008 29271008 29555009 29980002 30288003 311897005 31216003 313307000 32958008 343087000 36440009 367510009 373413006 3855007 396232000 398151007 398152000 398309008 399939002 405752007 40700009 416286003 416377005 417338002 417558002 423230008 432788009 43689004 44513007 48251003 48641006 50956007 5102002 57190000 63567004 698065002 70142008 78164000 80281008 84757009 86203003 87642003 87979003 90708001 91175000 95515009 95828007 9634000 more UMLS 71 C0796232

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

Clinical features from OMIM:

605039

Search NIH Clinical Center for Bohring-Opitz Syndrome

Search GEO for disease gene expression data for Bohring-Opitz Syndrome.