Though there is presently no cure for BBSOAS, with early intervention and proper management, much can be done to improve the quality of life of those affected. [tsbvi.edu]

At present, this should include physical therapy, occupational therapy, and speech therapy, as well as ABA therapy if autism is present. There are also a variety of strategies that can be implemented to support children’s learning and development. [nr2f1.org]

Strabismus and latent nystagmus are often present. Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported. [disorders.eyes.arizona.edu]

• Epilepsy

  Epilepsy is the worst—Lola will prevail though as she is one tough chica. #daughter #lola #kid #epilepsy #rare #seizures #neurology #nr2f1 #bbsoas #disabilities #specialneeds Half of the that make up this Zoo. [storgram.com]

  Epilepsy is the worst—Lola will prevail though as she is one tough chica. #daughter #lola #kid #epilepsy #rare #seizures #neurology #nr2f1 #bbsoas #disabilities #specialneeds last month 7 likes Half of the that make up this Zoo. [tiktogram.com]

  To families and individuals who live with epilepsy: We see your strength through these difficult times and we support you. [imgrum.org]

  Retrieved on August 17, 2015 from: http://www.ninds.nih.gov/disorders/autism/detail_autism.htm Epilepsy Foundation. (2014). "What is Epilepsy?". [cerebralpalsyguide.com]

  Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]

• Pallor

  Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. [diseaseinfosearch.org]

  (A) Eye fundus (RE: right eye; LE: left eye) from patient II.4 (top) and patient III.4 (bottom) disclose temporal pallor of the optic disks. [frontiersin.org]

  NR2F1 gene Symptoms // Phenotype % Cases Autosomal dominant inheritance Very Common - Between 80% and 100% cases Anteverted nares Very Common - Between 80% and 100% cases Cortical visual impairment Very Common - Between 80% and 100% cases Optic disc pallor [mendelian.co]

  […] the repeat region on chromosome 14q11.2 #164300 OGUCHI DISEASE Congenital stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor [eyewiki.aao.org]

• Developmental Disorder

  Addition Articulation Disorder Issue #6 - Disorders in this issue: Dysgraphia Turner Syndrome Landau-Kleffner Syndrome Issue #7 - Disorders in this issue: Osteogenesis imperfecta (OI)-Brittle Bone Disease Multiplex Developmental Disorder Addison's Disease [naset.org]

  […] or to misspecification of midhindbrain germinal zones, 2) malformations associated with later generalized developmental disorders that significantly affect the brain stem and cerebellum, 3) localized brain malformations that significantly affect the [ajnr.org]

  (NCIt) Also referred to as ‘specific dyslexia,’ 'developmental reading disorder,’ and ‘developmental word blindness.’ Dysphoria : a state of unease or discomfort; especially an unpleasant state of mind marked by malaise, depression, or "anxiety." [richardsonthebrain.com]

  […] and speech delay due to SOX5 deficiency Developmental delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction [se-atlas.de]

  Genetic testing panels for the assessment and treatment of autism and other pervasive developmental disorders other than CGH. [aetna.com]

• Pneumonia

  Respiratory causes, including aspiration and pneumonia, are the most common primary causes (31%) followed by gastrointestinal disease, including obstruction/volvulus (19%). [patient.info]

  […] individualized education plan (IEP), Physical/Occupational/Speech therapy and others as indicated Sleep hygiene, ruling out sleep problems if indicated (such as obstructive sleep apnea) Prevention of infections: recommended vaccinations, prevention of aspiration pneumonia [childneurologyfoundation.org]

  Causes “pneumonia,” (skin) rashes, and seizures. Usually results from “exon” skipping in the gene encoding an enzyme necessary for the survIval of certain neurons that control sensation and involuntary responses. [richardsonthebrain.com]

• Vomiting

  Pyloric stenosis is the most frequent cause of persistent vomiting in the newborn period and identified in 4%. Other abnormalities include intestinal malrotation (2%) and congenital diaphragmatic hernia (1%). [patient.info]

  Migraine headaches are extremely painful recurring headaches that are sometimes accompanied by nausea and vomiting; most migraine sufferers have a family history of the disorder. [britannica.com]

  ABCB11-related intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis ABCB4-related intrahepatic cholestasis, see progressive familial intrahepatic cholestasis abdominal hernia, see abdominal wall defect abdominal migraine, see cyclic vomiting [mygenomics.com]

  Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

• Hypotension

  Patients with this condition may also have autonomic dysfunction such as pupillary abnormalities, abnormal reaction to intradermal histamine, abnormal sweating and orthostatic hypotension. [reviewofophthalmology.com]

• Visual Impairment

  […] cortical visual impairment (CVI). [nri.texaschildrens.org]

  Most patients also have evidence of cerebral visual impairment. {ECO:0000269 PubMed:24462372}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. [orpha.net]

• Myopathy

  Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy, Welander type Distal myotilinopathy Distal nebulin myopathy Distal [se-atlas.de]

  Nemaline Myopathy Oligodendroglioma Pachymeningitis Picks Disease Pilocytic Astrocytoma Poliomyelitis Polymyoneuropathy Primary Dystonia (case by case) Progressive Systemic Sclerosis Sacral Neuroplexy Sacral Plexopathy Schizophrenia (Catatonic) Spinal [bladderbowel.gov.au]

  OPA3, Autosomal Dominant Optic Atrophy And Cataract, Autosomal Dominant OPA3 165300 Genetic Test Registry Optic Atrophy 7 With Or Without Auditory Neuropathy OPA7 612989 Genetic Test Registry Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy [ukgtn.nhs.uk]

  Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. [diseaseinfosearch.org]

• Muscle Weakness

  It is a multisystem disorder characterized by developmental delay, intellectual disability, autism spectrum disorder, muscle weakness (hypotonia), seizures, thinning of the corpus callosum, vision disorders (optic atrophy and cerebral visual impairment [humandiseasegenes.nl]

  It has also been found that some patients with PCH type 1 develop the signs of muscle weakness or developmental delay at the age of several months. These late presenting patients have a milder form and may live up to four years. [rarediseases.org]

  Toxic symptoms affecting the muscles include cramps, weakness, and atrophy or even acute degeneration. Drugs may also reduce levels of potassium in the blood, resulting in secondary weakness of muscles. [britannica.com]

  dementia, intellectual disability, developmental delay, migraine headaches, autism, atypical cerebral palsy Skeletal muscles: weakness, fatigue, exercise intolerance, myopathy, hypotonia Peripheral nerves: absent reflexes, neuropathic pain, dysautonomia [childneurologyfoundation.org]

  Some common symptoms include rapid heartbeat, shortness of breath, changes in eyes and vision, tremors and muscle weakness, anxiety, difficulty concentrating and insomnia. [tsbvi.edu]

• Muscle Spasticity

  Common features of XLAG include muscle spasticity, hypotonia, epilepsy, abnormal genitalia, developmental delay, and severe intellectual disability. [chginc.org]

• Macula

  Cerebromacular degeneration Degeneration of the inner layer of the retina Retinal pigmentary changes Optic atrophy "Cherry red" spot in macula Turner's syndrome This syndrome affects females. [tsbvi.edu]

  granular appearing macula, vertical supranuclear gaze palsy AR NPC1, NPC2, SMPD1 #257200, #607616, #257220 NOONAN SYNDROME Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures AD Numerous Multiple NORMAL-TENSION GLAUCOMA [eyewiki.aao.org]

  G25.0 Essential tremor [benign] G25.3 Myoclonus [dystonia] G30.0 - G30.9 Alzheimer's disease G43.401 - G43.419 Hemiplegic migraine G47.411 - G47.429 Narcolepsy and cataplexy H35.051 - H35.059 Retinal neovascularization H35.30 - H35.33 Degeneration of macula [aetna.com]

• Translucent Skin

  […] with atrophic scars, velvety and translucent skin, widely spaced eyes) (Testing strategy: Begin with sequence analysis of TGFBR2. [aetna.com]

  The syndrome is typically characterized by thin, translucent skin, easy bruising, characteristic facial appearance, and arterial, intestinal, and/or uterine fragility. [chginc.org]

• Skin Rash

  Weeks later, secondary syphilis develops and causes a skin rash and signs of meningitis. [britannica.com]

  Causes “pneumonia,” (skin) rashes, and seizures. Usually results from “exon” skipping in the gene encoding an enzyme necessary for the survIval of certain neurons that control sensation and involuntary responses. [richardsonthebrain.com]

• Narrow Face

  face, prominent narrow jaw, frontal bossing, malar flushing), and developmental delay/intellectual disability. [chginc.org]

  Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders. [aetna.com]

• Seizure

  They were likely seizures all along—just as I suspected. We’re told these seizures are stubborn and rare—like nothing any one of the numerous neurologists who treated her had ever seen. [tiktogram.com]

• Global Developmental Delay

  NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A. 2013;161A:377–381. https://doi.org/10.1002/ajmg.a.35650. 9. Chen CA, et al. [nature.com]

  Most common symptoms of BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS Autosomal dominant inheritance Intellectual disability Global developmental delay Generalized hypotonia Pica More info about BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS [mendelian.co]

  delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction dysplasia Diffuse cerebral and cerebellar atrophy-intractable [se-atlas.de]

  Mild to severe developmental delay/regression is also commonly seen. [chginc.org]

  Angelman and Prader-Willi syndromes Angelman syndrome (AS) is a neurogenic disorder characterized by developmental delay, lack of speech, seizures and walking and balance disorders. [aetna.com]

• Papilledema

  MUCOPOLYSACCHARIDOSIS TYPE IH/S (HURLER-SCHEIE SYNDROME) Corneal clouding AR IDUA #607015 MUCOPOLYSACCHARIDOSIS TYPE IS (SCHEIE SYNDROME) Corneal clouding, retinopathy, glaucoma AR IDUA #607016 MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME) Retinopathy, ptosis, papilledema [eyewiki.aao.org]

  This swelling, called papilledema, is caused by raised pressure within the skull. [britannica.com]

• Perseveration

  But we’ve also witnessed a little girl persevere through unbelievable hurdles. We’ve watched her push through therapies. We’ve seen her fail at tasks but then immediately try again. And through it all she continues to smile. She’s happy. [sayholalola.com]

  Our kids are our heroes, they put up with so much and still they persevere. They are determined and they are happy! We are so lucky to have them in our lives. [kapatu.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

• Gliosis

  The hypoplasia of the pons and cerebellum and spinal anterior horn cell degeneration is also associated with pronounced reactive changes (gliosis). PCH type 1 is associated with reduced fetal movement. [rarediseases.org]

Treatment Treatment Options: Only symptomatic treatment is available. Low vision aids and special education may be of benefit. [disorders.eyes.arizona.edu]

Has limited or no treatment options Finally, some diseases are not currently curable and effective treatment options are lacking. e.g. Krabbe disease, Bloom syndrome, Pompe disease. [counsyl.com]

Treatment depends on which disorder that you have. With some optic nerve disorders, you may get your vision back. With others, there is no treatment, or treatment may only prevent further vision loss. [medlineplus.gov]

PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example). [childneurologyfoundation.org]

Guidelines detailing recommendations for evaluation and management of individuals diagnosed with CdLS have been published. [ 16 ] Prognosis [ 17 ] Most early deaths are in severely affected babies and occur in the first two years of life. [patient.info]

[…] lenses of the eye are small, spherical and prone to subluxation Ectopia lentis (partial displacement of the lens) which leads to lenticular myopia Iridonesis (an iris that is not held in place by the lens) Glaucoma (which resists treatment) Poor visual prognosis [tsbvi.edu]

The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis. [aetna.com]

(Etiology) There are many cause factors for Optic Nerve Atrophy, and these may be unrelated to each other. [dovemed.com]

CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology [molecularvisionlab.com]

Identifying the specific genetic etiology is important for counseling and clinical management. A 6-yr-old boy with a clinical diagnosis of DBA has been followed by our pediatric hematology team since birth. [readbyqxmd.com]

Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996;38(7):684-7. Barth PG, Blennow G, Lenard HG, et al. [rarediseases.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

The basic problem appears to be the effect of the genetic mutation on cohesin, a protein which controls faithful chromosome segregation during mitotic and meiotic cell cycles. [ 4 ] Epidemiology [ 5 ] Data from the database of the European Surveillance [patient.info]

The Department of Ophthalmology of the University-Hospital of Montpellier has the authorization # 11018S from the French Ministry of Health to perform biomedical research in the field of physiology, pathophysiology, epidemiology, and genetics in ophthalmology [frontiersin.org]

Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Am J Hum Genet. 1997;61:660-667. Gonnaud PM, Sturtz F, Bonnebouche C, et al. [aetna.com]

The possible consequences of AFG3L2 mutation might be related to the pathophysiology of DOA, a disease which is caused by OPA1 haplo-insufficiency or eventually by a dominant negative process ( Olichon et al., 2007 ). [frontiersin.org]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

With others, there is no treatment, or treatment may only prevent further vision loss. [medlineplus.gov]

Centers for Disease Control and Prevention. (2015). "Key Findings: Prevalence of cerebral palsy, co-occurring autism spectrum disorders, and motor functioning". [cerebralpalsyguide.com]

"Azacytidine and retinoic acid, the latter a form of vitamin A, prevented tumor cells from rapidly multiplying, restored normal cell function, and activated several tumor suppressor genes that are often turned off in tumors," said study co-leader Maria [sciencedaily.com]

While this cuts through much of the red tape involved in the SSD application process, it does not prevent the need for completing the application or providing substantiating medical and other records associated with your child’s disability. [disabilitybenefitscenter.org]