ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
Start
www.bohring-opitz.org
ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
www.bohring-opitz.org
ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
www.bohring-opitz.org
Craniofacial - Head
- Microcephaly
- Broad, narrow, bulging, prominent forehead
- Trigonocephaly / Craniosynostosis (premature fusion of the metopic suture)
- Prominent metopic ridge
- Hypoplastic orbital ridges
- Micro/retrognathia
- Hypotonic facies with full (puffy) cheeks
- Facial asymmetry
- Long face at a later age
- Small anterior fontanel
www.bohring-opitz.org
Eye & Vision
- High Myopia (near-sighted)
- Strabismus, Exotropia (alignment of eye)
- Nystagmoid (purposeless) movements
- Anterior chamber, Retinal, Optic nerve abnormalities, Large cup to disc ratio
- Absence of tears
- Poor visual interaction
- (Cortical) Visual impairment (vision loss)
- Prominent eyes
- Exophthalmos / Proptosis (bulging eyes)
- Hypertelorism (widely spaced eyes)
- Upward slanting palpebral fissures
- Epicanthal folds
Corrective lensesRegular follow up for vision optimization
www.bohring-opitz.org
ENT & Dental issues
Clinical signs and symptoms of ear, nose, mouth and throat, as well as dental issues.
www.bohring-opitz.org
Skin & Hair
- Nevus flammeus (birth mark) on glabellar and eyelid
- Hypopigmented spot(s) on chest
- Cutis Laxa (loose skin)
- Deep palmer creases (a deep line in the palm)
- Sacral dimple (indentation in the skin on the lower back)
- Hypertrichosis (excessive hair abnormal hair density and length)
- Low posterior hairline
- Synophrys (unibrow, abundance of hair between the eyebrows)
- Rapid hair and nail growth
- Hirsutism dorsal (hairy back)
www.bohring-opitz.org
Growth & Feeding
- Intrauterine growth restriction (IUGR)
- Growth retardation (postnatal growth restriction)
- Underweight
- Short stature
- (Infant) Feeding difficulties
- (Cyclic) Emesis (vomiting)
- Oral motor impairment
- Failure to thrive
Feeding therapyIdentification and avoiding triggers for cycling vomiting
www.bohring-opitz.org
Gastrointestinal
- Emesis (vomiting)
- Gastro-esophageal reflux disease
- Paraoesophageal hernia
- Intestinal malrotation
- Constipation
- Inguinal hernia
- Abdominal distension
GastrostomyNasogastric Tube (NG Tube) Nissen Fundoplication Volvulus ostomy Intestinal resection Close monitoring of feeding intolerance
www.bohring-opitz.org
Biliary & Metabolic System
- Gallstones
- Hyperechogenic (fatty) pancreas
- Annular pancreas
- Chronic pancreatitis
- Hepatoblastoma (liver tumor)
- Splenic cyst
- Metabolic abnormalities
- Hypothyroidism (underactive thyroid)
abdominal ultrasound every 3 months from birth to eight years to detect the development of Hepatoblastoma) and measurement of alpha-fetoprotein (AFP) via blood draw every three months until age 5
www.bohring-opitz.org
Cardiovascular System
- Cardiac abnormalities
- Atrial and/or Ventricular Septal Defect (congenital heart defect, hole in the wall of two heart chambers)
- Arrhythmias (irregular heartbeat)
- Bradycardia (slow heart rate)
- Cardiac hypertrophy (thickened heart muscle)
- Heart murmur
- Dilated cardiomyopathy (enlarged heart chamber)
- Congestive heart failure
www.bohring-opitz.org
Respiratory System
- Respiratory distress (Neonatal)
- Obstructive sleep apnea
- Dyspnea (shortness of breath)
- Pulmonary hypertension
- Recurrent Infections
Noninvasive pressure support Tracheostomy Polysomnography (sleep study to identify early obstructive apnea) Aggressive management of chronic emesis
www.bohring-opitz.org
Urology & Nephrology
- Recurrent urinary tract infections (UTI)
- Renal pelvicalyceal dilatation (widening of the renal pelvis)
- Vesicoureteral reflux
- Urinary retention
- Incontinence (not toilet trained)
- Renal (kidney) abnormalities
- Horseshoe kidney
- Renal stones
- Renal cysts
- Wilms Tumors
Renal ultrasound (every 3 months from birth to eight years to detect the development of Wilms tumor) Urinalysis for possible UTI
www.bohring-opitz.org
Genitourinary & Puberty
- Early puberty / early onset
- Dysfunctional uterine bleeding
- Genital abnormalities
- Penile adhesions
- Hypospadias (abnormality of anterior urethral and penile development)
- Undescended testicle
- Widely spaced intermammillary nipples (the presence of an additional nipple)
www.bohring-opitz.org
Musculoskeletal System - Muscles
- Hypotonia (low muscle tone)
- Hypertonia (high muscle tone)
- Spastic paraparesis (weakness and stiffness in the leg muscles)
- Dystonia/dystonic posturing
- Flexion contracture
- Motor delay/impairment
Walkers and braces
www.bohring-opitz.org
Musculoskeletal System - Body
- BOS Posture (fixed constrictors of the upper limbs)
- Scoliosis (curvature of the spine)
- Lordosis (inward curvature of the lower back)
- Thoracic kyphosis (Kelso’s hunchback)
- Enlargement of vertebral foramina (dorsal and lumbar regions)
- Bony thorax abnormalities (narrow thorax, sunken chest)
- Bilateral hip dysplasia/luxation
- Segmental overgrowth
Spinal fusion surgery Orthopedic evaluation if bony anomalies detected
www.bohring-opitz.org
Musculoskeletal System - Hand & Feet
www.bohring-opitz.org
Cognitive Development
- Severe/profound learning difficulties
- Global development delay
- Cognitive disability
- Severe/profound intellectual disabilities
- Autism
Early intervention programsIndividual education plansOccupational therapyPhysical therapyMedical equipment
www.bohring-opitz.org
Communication
- Delayed/Absent speech development
- Nonverbal
- Lack of expressive language
- Language impairment
- Decreased expressive communication
Speech therapy Augmentative and Alternative Communication (ACC) Strategies
www.bohring-opitz.org
Behavioral
- Stereotypic movement disorder, repetitive behavior
- Breath holding spells
- Lack of stranger anxiety
- Hypersensitivity
- Hyperactive
- Frequent tantrums
- Self-injurious behavior (eye poking)
- Pleasant and happy demeanor
- Curious, alert, and interactive
www.bohring-opitz.org
Sleep
- (Obstructive) Apneas (suspension of external breathing)
- Sleep disturbances
- Insomnia and/or Hypersomnia
- Excessive sleepiness (narcolepsy)
- Fatigue
- Irregular sleep/wake cycle
- High sleep latency
Severe obstructive sleep apnea may be treatable by tonsillectomy, adenoidectomy or mandibular distraction Melatonin Treatment of anemia
www.bohring-opitz.org
Neurological
- Brain abnormalities
- Brain activity abnormalities on MRI imaging
- Hypoplasia /Agenesis corpus callosum
- Cerebral Cortex anomalies
- Delayed peripheral myelination
- Enlarged ventricles (brain)
- Bulbar dysfunction
- Dandy-Walker-Syndrome
- Cyst on conus (spinal)
- Sacral hair patch / arachnoid cyst
www.bohring-opitz.org
The Genetic Cause
Bohring-Opitz syndrome is caused by mutations in the ASXL1 gene. The ASXL1 gene (OMIM 605039) is located on the chromosome 20q11.21.
www.bohring-opitz.org
Hand
- Ulnar deviation, flexion of wrist and fingers
- Overlapping toes and/or fingers
- Absenct/single palmar crease
- Brachydactyly (short digits)
- Preaxial polydactyly (extra digit(s) are localized on the side of the thumb or great toe)
- Fetal pads
- Camptodactyly (fingers fixed in a bent position at the middle joint and cannot fully straighten)
Nose
- Depressed nasal bridge
- Wide nasal bridge
- Anteverted nares (upturned nasasl tip)
- Short/long philtrum (vertical grove between nose and mouth)
- Choanal atresia (blocked nasal airway)
Ear
- Low-set posteriorly rotated ears
- Overfolding helices (ear)
- Small ear canals (ear canal stenosis)
- Hearing loss
- Ear infections
- Hearing Impairment
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Throat/Mouth
- Broad alveolar ridge, alveolar ridge overgrowth
- Abnormal (high and narrow) palate
- Unilateral and bilateral cleft/notch lip and/or palate, bifid uvula
- Buccal frenula
- Prominent palatine (tonsils) ridges
- Tongue-based airway obstruction (caused by micrognathia)
- Overproduction of salvia and mucous
- Narrow mouth
- Laryngomalacia and subglottic stenosis (narrowing of airway)
Mandibular distraction (surgery lengthening jaw) Tongue-lip adhesion Referring to craniofacial team Primary closure of cleft lip
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Feet
- Genu valgum (knock knees)
- Clubbed feet
- Small feet
- High arched feet
- Metatarsus adducts (front foot turned inward)
- Talipes valgus (deformity of the feet)
- Increased sandal gaps
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Dental Issues
- Delayed dental eruption
- Gingival hyperplasia or hypertrophy (abnormal overgrowth of gingival tissues)
- Widely spaced teeth
- Teeth grinding
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
ASXL1/Bohring-Opitz Syndrome - Signs & Symptoms
Bohring-Opitz Syndro
Created on January 11, 2024
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Transcript
ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
Start
www.bohring-opitz.org
ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
www.bohring-opitz.org
ASXL1/Bohring-Opitz Syndrome
Your Interactive Visual Aid symptoms, concerns, & treatment options
Based on published medical publications and case studies between 2006 - 2024
www.bohring-opitz.org
Craniofacial - Head
www.bohring-opitz.org
Eye & Vision
Corrective lensesRegular follow up for vision optimization
www.bohring-opitz.org
ENT & Dental issues
Clinical signs and symptoms of ear, nose, mouth and throat, as well as dental issues.
www.bohring-opitz.org
Skin & Hair
www.bohring-opitz.org
Growth & Feeding
Feeding therapyIdentification and avoiding triggers for cycling vomiting
www.bohring-opitz.org
Gastrointestinal
GastrostomyNasogastric Tube (NG Tube) Nissen Fundoplication Volvulus ostomy Intestinal resection Close monitoring of feeding intolerance
www.bohring-opitz.org
Biliary & Metabolic System
abdominal ultrasound every 3 months from birth to eight years to detect the development of Hepatoblastoma) and measurement of alpha-fetoprotein (AFP) via blood draw every three months until age 5
www.bohring-opitz.org
Cardiovascular System
www.bohring-opitz.org
Respiratory System
Noninvasive pressure support Tracheostomy Polysomnography (sleep study to identify early obstructive apnea) Aggressive management of chronic emesis
www.bohring-opitz.org
Urology & Nephrology
Renal ultrasound (every 3 months from birth to eight years to detect the development of Wilms tumor) Urinalysis for possible UTI
www.bohring-opitz.org
Genitourinary & Puberty
www.bohring-opitz.org
Musculoskeletal System - Muscles
Walkers and braces
www.bohring-opitz.org
Musculoskeletal System - Body
Spinal fusion surgery Orthopedic evaluation if bony anomalies detected
www.bohring-opitz.org
Musculoskeletal System - Hand & Feet
www.bohring-opitz.org
Cognitive Development
Early intervention programsIndividual education plansOccupational therapyPhysical therapyMedical equipment
www.bohring-opitz.org
Communication
Speech therapy Augmentative and Alternative Communication (ACC) Strategies
www.bohring-opitz.org
Behavioral
www.bohring-opitz.org
Sleep
Severe obstructive sleep apnea may be treatable by tonsillectomy, adenoidectomy or mandibular distraction Melatonin Treatment of anemia
www.bohring-opitz.org
Neurological
www.bohring-opitz.org
The Genetic Cause
Bohring-Opitz syndrome is caused by mutations in the ASXL1 gene. The ASXL1 gene (OMIM 605039) is located on the chromosome 20q11.21.
www.bohring-opitz.org
Hand
Nose
Ear
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Throat/Mouth
Mandibular distraction (surgery lengthening jaw) Tongue-lip adhesion Referring to craniofacial team Primary closure of cleft lip
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Feet
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Dental Issues
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Medical Disclaimer
Although the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar, each child is unique and may affected differently. Not everyone will have all of these certain physical characteristics, and the variation in level of development from one child to the next can be great. This infographic is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Medical Publications
References
Bohring et al. 2006, Pierron et al. 2009, Hasting et al. 2011, Magini et al. 2012, Russell et al. 2013, Russell et al. 2015, Dangiolo et al. 2015, Arunachal et al. 2016, Kibe et al. 2018, Urreitzti et al. 2018, Bedoukian et al. 2018, Russell et al. 2018, Quintero et al. 2019, Efthymiou et al. 2019, Rohanizadegan et al. 2020, Leon et al. 2019, Zhao J. et al. 2021, Cuddapah et al. 2021, Zhao W. et al. 2021, Joshi et al. 2023, Russell et al. 2023, Ayoub et al. 2023, Patel et al. 2024
Bohring-Opitz Syndrome Bibliography