Topic: Clinical Genetics Presenting Author: Bianca Russell, MD, Cincinnati Children’s Hospital Co-Authors: S. van Gemert-Godbersen; S. Bermejo; A. Bromley; J. [fdna.com]

Presentation[edit] This condition is characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.[1] Children [en.wikipedia.org]

In the reported case the child presented in our neuropediatric department for further diagnostic work up of a global developmental delay in combination with failure to thrive. [thieme-connect.com]

While the aforementioned characteristics are considered classic, individuals may present more variably, so BOS should not be entirely excluded necessarily on clinical presentation alone, unless obvious signs of another condition are present. [rarediseases.org]

• Short Stature

  Bohring-Opitz Syndrome is a rare congenital disorder that is characterized by abnormal facial features, short stature, learning disability, and feeding difficulty. [patientslikeme.com]

  stature, intrauterine growth retardation, failure to thrive, feeding difficulties, gastroesophageal reflux, microcephaly, coarse facies, dysmorphic features including brachycephaly, triangular and hypotonic face, micrognathia, prominent forehead, retrognathia [preventiongenetics.com]

  She exhibited the following features: delayed motor development, drooling, short stature, slow growth, low muscle tone, hypoplasia of the corpus callosum as determined by image diagnosis, delayed tooth eruption, high palatal arch, adduction of the thumb [journals.lww.com]

  stature, joint abnormalities, abnormal tone, severe/profound developmental delay, susceptibility to infections, feeding difficulties, and high infant mortality. [nature.com]

• Poor Feeding

  Poor feeding requiring gastrostomy feeding and gastro-esophageal reflux were problematic in early childhood, but have since almost resolved. [nature.com]

• Failure to Thrive

  The cause for the failure to thrive is yet not known. In the reported case the child presented in our neuropediatric department for further diagnostic work up of a global developmental delay in combination with failure to thrive. [thieme-connect.com]

  Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on. [talynnsjourney.com]

  He had feeding difficulties and failure to thrive. [nature.com]

  Presentation[edit] This condition is characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.[1] Children [en.wikipedia.org]

  Description 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 [rareguru.com]

• Hirsutism

  (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 [encyclopedia.pub]

  Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). [rarediseases.oscar.ncsu.edu]

• Widely Spaced Nipples

  spaced nipples, hypotonia, and BOS posture with long clenched fingers and right positional foot deformity, but no true contractures initially. [nature.com]

• Unable to Walk

  Those that survive are frequently unable to walk on their own and are nonverbal. In late childhood, some people have had success using walkers and braces. [news-medical.net]

• Dystonia

  The background history was significant for severe developmental delay, epilepsy, scoliosis, dystonia and the patient was fed via a percutaneous enteral gastrostomy. He has undergone anaesthesia five times in our institution. [journals.lww.com]

[…] teaching and sharing knowledge about BOS, and its best practices and treatments increasing a sense of community surrounding BOS [nationaldaycalendar.com]

Any new symptom that occurs should be evaluated by the treatment team. [krebs-praedisposition.de]

Standard Therapies Treatment There are currently no definitive treatments, medications, or therapies that will reverse the symptoms of BOS as there are no proven treatments to change an individual’s mutation in the ASXL1 gene. [rarediseases.org]

When a child is diagnosed with this syndrome, parents are generally left in a stressful situation with numerous unanswered questions about the future prognosis of their child. [bohring-opitz.org]

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. (2012) 5:12. doi: 10.1186/1756-8722-5-12 PubMed Abstract | CrossRef Full Text | Google Scholar 6. [frontiersin.org]

Article dans une revue Abstract : Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. [hal.archives-ouvertes.fr]

It is also possible that there may be separate disorders with closely overlapping phenotypes but differing etiologies. [nature.com]

[citation needed] Epidemiology[edit] The syndrome is extremely rare, with fewer than 80 reported cases worldwide.[citation needed] References[edit] ^ Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). [en.wikipedia.org]

Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted. [ncbi.nlm.nih.gov]

Article CAS PubMed Google Scholar Psaty BM, O'Donnell CJ, Gudnason V, Lunetta KL, Folsom AR, Rotter JI, Uitterlinden AG, Harris TB, Witteman JC, Boerwinkle E: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of [genomemedicine.biomedcentral.com]

Tracheostomy or mandibular distraction to treat difficulty breathing Regular heart monitoring if heart malformations are present Surgery to treat any of the following: Laryngotracheoesophageal malformations Cleft lip/palate Heart defects Reflux medications to prevent [chop.edu]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [rarediseases.oscar.ncsu.edu]

In addition, the child experienced several seizures <10 days after birth; however, treatment with midazolam and phenobarbitone prevented further seizures, and she remained seizure free after treatment was stopped. [frontiersin.org]