Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. [orpha.net]

Additional suspicion should be present for patients from other ethnic groups that may have sporadic disease. [eyewiki.aao.org]

Each diagnosis includes clinical presentation(s) of affected patients, the best sequences for imaging analysis, expected imaging sequences (in both common and uncommon presentations), and imaging examples of key features. [books.google.com]

We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported. [ajnr.org]

• Developmental Delay

  It also variably includes autism and/or developmental delay. [eyewiki.aao.org]

  delay variable manifestations: swallowing dysfunction vocal cord paralysis facial paresis seizures cardiac outflow tract anomalies More General Terms developmental disorder genetic syndrome (multisystem disorder) Internet Database OMIM: 601536 References [anvita.info]

  Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. [arizona.pure.elsevier.com]

  Case Report A 2-year-old female patient of Navajo descent was assessed for developmental delay. The child was unable to speak or walk and had failed neonatal hearing screens. [ajnr.org]

• Disability

  disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

  Autism and a variety of learning disabilities have been reported in patients with Möbius syndrome (10, 15, 16), and general motor disability and incoordination are present in 90% (3). [neuroophthalmology.ca]

  Developmental milestones are delayed in these patients, and IQ scores measuring non-verbal intelligence show moderate to severe intellectual disability.[1] Early interventions with sign language communication may be beneficial to prevent severe communication [eyewiki.aao.org]

  Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development. [centogene.com]

  Both children showed develop-ment functioning at an infant level, raising the possibi-lity of greater disability secondary to hypoxic braininjury. [docslide.com.br]

• Developmental Disorder

  […] delay variable manifestations: swallowing dysfunction vocal cord paralysis facial paresis seizures cardiac outflow tract anomalies More General Terms developmental disorder genetic syndrome (multisystem disorder) Internet Database OMIM: 601536 References [anvita.info]

  The most current hypothesis suggests a disseminated developmental disorder of the rhombencephalon rather than focal cranial nerve nuclei damage (1). It is known to affect males and females equally. [neuroophthalmology.ca]

  […] 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]

• Epilepsy

  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]

  […] anadysplasia Metaphyseal dysplasia without hypotrichosis Microcephalic osteodysplastic primordial dwarfism Microcephaly and chorioretinopathy with or without mental retardation Microcephaly with cortical malformations, autosomal recessive Microcephaly with epilepsy [qlinics.com]

  […] type 1 RNU4ATAC Microcephalic osteodysplastic primordial dwarfism type 2 PCNT Microcephaly and chorioretinopathy with or without mental retardation TUBGCP6 Microcephaly with cortical malformations, autosomal recessive type 2 WDR62 Microcephaly with epilepsy [centogene.com]

• Multiple Congenital Anomalies

  congenital anomalies-hypotonia-seizures syndrome type 1 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Myhre syndrome Native American myopathy Neuroaxonal neurodegeneration, infantile, with facial dysmophism [qlinics.com]

  congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Multiple system atrophy Multiple system atrophy, cerebellar [se-atlas.de]

  congenital anomalies-hypotonia-seizures syndrome type 1 PIGN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Myhre syndrome SMAD4 Native American myopathy STAC3 Neuroaxonal neurodegeneration, [centogene.com]

• Nausea

  Symptoms include visual disturbances, difficulty walking, difficulty swallowing, headache, nausea, vomiting, and behavioral changes. [news-medical.net]

• Vomiting

  Symptoms include visual disturbances, difficulty walking, difficulty swallowing, headache, nausea, vomiting, and behavioral changes. [news-medical.net]

• Hearing Impairment

  impairment 0000407 Showing of 5 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  impairment Articulation/speech disorders Minor mid-line anomalies Club feet Hand/feet deformaties Differential Diagnosis The distribution of the facial weakness and lack of other associated palsies usually causes differentiated diagnosis. [mobiussyndrome.weebly.com]

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

• Paresis

  […] rare genetic syndrome affecting the brainstem of the central nervous system that consists of congenital horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and other variable features that can include facial paresis [eyewiki.aao.org]

  Athabaskan Brainstem Dysgenesis Trials Eleventh Nerve Disorder Horizontal Gaze Palsy Fourth Nerve Palsy Horizontal Gaze Palsy With Progressive Scoliosis Facial Paresis, Hereditary, Congenital Levator-Medial Rectus Synkinesis Any 17 and under 18 - 34 35 [patientwing.com]

  Database 5 References Genetics associated with defects in HOXA1 Clinical-manifestations horizontal gaze palsy sensorineural deafness central hypoventilation developmental delay variable manifestations: swallowing dysfunction vocal cord paralysis facial paresis [anvita.info]

  Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac out-flow tract anomalies. [arizona.pure.elsevier.com]

  Patients may also experience swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. [novusbio.com]

• Stroke

  The unexpected fatal basilar artery stroke ofpatient 1 also raises the possibility of an undiagnosedvascular anomaly.In this regards, there is an interesting case reportfrom 15 years ago from University of New Mexico. [docslide.com.br]

  Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis [se-atlas.de]

• Neonatal Onset

  […] hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome [se-atlas.de]

Treatment - Athabaskan brainstem dysgenesis Not supplied. Resources - Athabaskan brainstem dysgenesis [checkorphan.org]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment includes supplemental oxygen or mechanical ventilation. [1] It is possible that ABDS may be not be all that rare among Athabaskan Native Americans. [rarediseases.info.nih.gov]

Finding the gene that causes such an illness offers hope for prevention and treatment. [uanews.arizona.edu]

Prognosis - Athabaskan brainstem dysgenesis Not supplied. Treatment - Athabaskan brainstem dysgenesis Not supplied. Resources - Athabaskan brainstem dysgenesis [checkorphan.org]

This should also include those presenting with recurrent aspiration pneumonia as this has also been linked with the disease.[1] Prognosis Limited number of cases show that the prognosis depends on the severity of the associated clinical features.[1] Select [eyewiki.aao.org]

Care should be provided by multidisciplinary teams, in which neonatologists, pediatric neurologists, nutritionists, physical therapists, and other professionals participate, depending on the associated morbidity in order to improve its management and prognosis [degruyter.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

Mobius’ syndrome: features and etiology. J Pediatr Ophthalmol Strabismus 1998;35(6):304-11; quiz 327-8. 24. D’Cruz OF, Swisher CN, Jaradeh S, Tang T, Konkol RJ. Mobius syndrome: evidence for a vascular etiology. J Child Neurol 1993;8(3):260-5. 25. [neuroophthalmology.ca]

Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology. Pediatr Neurol. 2005;32:285–7. Crossref PubMed Google Scholar [16] Roig M, Gratacòs M, Vazquez E, Del Toro M, Foguet A, Ferrer I, et al. [degruyter.com]

[…] similar features such as facial weakness; however, this was ultimately found to be a distinct syndrome with characteristic features such as sensorineural deafness, horizontal gaze palsy and central hypoventilation not seen in typical Möbius syndrome.[1] Etiology [eyewiki.aao.org]

Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology. Pediatr. Neurol. 32, 285–287 27 Kankirawatana, P., Tennison, M. B., D’Cruz, O. & Greenwood, R. S. Möbius syndrome in infant exposed to cocaine in utero. Pediatr. [moebiussyndrome.info]

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]

[…] syndrome Synonym(s): - ABSD - Athabascan brainstem dysgenesis syndrome - Navajo brainstem syndrome Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Relevant External Links for HOXA1 Genetic Association Database (GAD) HOXA1 Human Genome Epidemiology (HuGE) Navigator HOXA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HOXA1 No data available for Genatlas for HOXA1 Gene HOXA1 A218G [genecards.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate). [books.google.com]

Pathophysiology The pathophysiology of ABDS is thought to be related to involvement of various control centers and nuclei in the brainstem.[1] Absence of bilateral abducens nuclei is thought to result in complete loss of lateral rectus function and loss [eyewiki.aao.org]

Prevention - Athabaskan brainstem dysgenesis Not supplied. Diagnosis - Athabaskan brainstem dysgenesis Not supplied. Prognosis - Athabaskan brainstem dysgenesis Not supplied. Treatment - Athabaskan brainstem dysgenesis Not supplied. [checkorphan.org]

Finding the gene that causes such an illness offers hope for prevention and treatment. [uanews.arizona.edu]

Developmental milestones are delayed in these patients, and IQ scores measuring non-verbal intelligence show moderate to severe intellectual disability.[1] Early interventions with sign language communication may be beneficial to prevent severe communication [eyewiki.aao.org]

Conclusions: Early diagnosis of BSD is mainly clinical, difficult to establish unless suspected, and crucial to prevent complications. [degruyter.com]