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

Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q87.8 OMIM: 601536 UMLS: C1832216 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Facial asymmetries and mild external ear malformations were also sometimes present. [rarediseases.org]

[…] initial misdiagnosis unfortunately is common for this phenotypic presentation. [ojrd.biomedcentral.com]

Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. PDF [pulsus.com]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

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

  Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally [ncbi.nlm.nih.gov]

  delay and occasionally autism. [orpha.net]

• Developmental Disorder

  […] of trunk 609622007 Cardiovascular finding 106063007 Developmental disorder 5294002 Clinical history and observation findings 250171008 Finding of region of thorax 298705000 Finding of upper trunk 609623002 Disorder of trunk 128121009 Finding of trunk [findacode.com]

  Classification Continuous advances in developmental biology, molecular genetics, and neuroimaging have increased the interest in developmental disorders of the midbrain and hindbrain and all this amount of information has led to sophisticated developmental [neurologia.com]

  Oculo-auriculo-vertebral spectrum (ORPHA:141132) Oculo-auriculo-vertebral spectrum is a developmental disorder involving abnormal development of the first and second pharyngeal arches. [ojrd.biomedcentral.com]

• Hypoxemia

  Adults SIADH - Syndrome of Inappropriate Antidiuretic Hormone SLJM - Syndrome of Limited Joint Mobility DCR1 - Syndrome Chromosome Region 1 SAF - Syndrome d'Alcoolisme Foetal SARS - Syndrome Respiratoire Aigu Sévère SARH - Syndrome of Acute Reversible Hypoxemia [acronymsandslang.com]

• Fatigue

  Foetal SARS - Syndrome Respiratoire Aigu Sévère SARH - Syndrome of Acute Reversible Hypoxemia SHU - Syndrome Hémolytique et Urémique SHH - Syndrome of Hyporeninemic Hypoaldosteronism SDRP - Syndrome Dysgenesique Respiratoire Porcin SFC - Syndrome de Fatigue [acronymsandslang.com]

• Pneumonia

  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]

  One sibling developed restrictive lung disease and died of pneumonia at age 37 years [29, 30]. CFZS results from recessive mutations in the MYMK gene [31]. [ojrd.biomedcentral.com]

• Heart Disease

  Structural disorder of heart 128599005 Congenital heart disease 13213009 Bosley Salih Alorainy syndrome 720567008 SNOMED CT Concept 138875005 Clinical finding 404684003 Clinical history and observation findings 250171008 Functional finding 118228005 Hearing [findacode.com]

• Strabismus

  Journal of American Association for Pediatric Ophthalmology and Strabismus. 2010;14(1):78-80. The Academy uses cookies to analyze performance and provide relevant personalized content to users of our website. [eyewiki.aao.org]

  Strabismus 2014, 18, 389–391. [Google Scholar] [CrossRef] Nugent, A.A.; Kolpak, A.L.; Engle, E.C. Human disorders of axon guidance. Curr. Opin. Neurobiol. 2012, 22, 837–843. [mdpi.com]

  J Pediatr Ophtalmolol Strabismus 1991; 28: 47-54. ↵ 14. Marques-Dias MJ, Gonzalez CH, Rosemberg S. Moebius sequence in children exposed in utero to misoprostol: neuro- pathological study of three cases. [neurologia.com]

  CFP with or without strabismus, but without a limitation in horizontal or vertical ocular movement and without other major systemic involvement is suggestive of HCFP and includes the HOXB1 syndrome as well as genetically undefined forms of autosomal dominant [ojrd.biomedcentral.com]

• Esotropia

  Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. J. Am. Assoc. Pediatr. Ophthalmol. Strabismus 2014, 18, 389–391. [mdpi.com]

  Seven of 17 or 41% of patients were noted to have esotropia. Patients had full ocular motility, and thus did not meet the minimum diagnostic criteria for Moebius syndrome (see below). [ojrd.biomedcentral.com]

• Hearing Problem

  Therefore, it has been suggested that all Athabaskan Native American children presenting with horizontal gaze palsies and hearing problems be evaluated for this condition. [rareguru.com]

  Furthermore, some patients can also display normal eye movements and hearing, but may still have arterial and/or conotruncal heart malformations that could cause significant medical problems. [rarediseases.org]

  The quality of speech production may be worsened by conductive hearing problems secondary to chronic serous otitis which is caused by Eustachian tube malfunction due to the secondary deformities of intra-oral structures and velo-palatine insufficiency [neurologia.com]

• Hearing Impairment

  Sensorineural hearing impairment Hearing loss, sensorineural, Sensorineural deafness [more] A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [rarediseases.oscar.ncsu.edu]

• Hyperactivity

  Abbreviations or Slang with similar meaning SADH - Syndrome of Attention Deficit and Hyperactivity SHYMA - Syndrome of Hydrocephalus in Young and Middle-Aged Adults SIADH - Syndrome of Inappropriate Antidiuretic Hormone SLJM - Syndrome of Limited Joint [acronymsandslang.com]

  Clinical manifestations in this group of patients are quite variable and are ill defined; little is known of their clinical course, prognosis and possible contribution to the origin of attention deficit hyperactive disorders (ADHD) or autistic spectrum [neurologia.com]

  Hypertryptophanemia], 600627 (3);{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3);{Unipolar depression, susceptibility to}, 608516 (3);600627;613003;608516; TPI1Hemolytic anemia due to triosephosphate isomerase deficiency, [qgenomics.com]

• Encephalopathy

  Congenital scoliosis associated with encephalopathy in five children of two families. J. Bone Jt. Surg. Ser. A 1974, 56, 1747–1750. [Google Scholar] [CrossRef] Crisfield, R.J. Scoliosis with progressive external ophthalmoplegia in four siblings. J. [mdpi.com]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

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 may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment includes supplemental oxygen or mechanical ventilation. It is possible that ABDS may be not be all that rare among Athabaskan Native Americans. [rareguru.com]

Management ABDS is managed with supportive treatment. [eyewiki.aao.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]

Prognosis The prognosis of BSD depends on the cause and extent of the disruptive lesion or the impact of the abnormal developmental process involving the BS. [neurologia.com]

Evaluation strategy for consultants Establishing a specific cause of congenital facial weakness enables accurate discussions of treatment, management, and prognosis and allows for precise genetic counseling. [ojrd.biomedcentral.com]

[from SNOMEDCT_US] Etiology Can J Ophthalmol 2011 Dec;46(6):477-80. doi: 10.1016/j.jcjo.2011.09.009. PMID: 22153632 Diagnosis Oystreck DT, Salih MA, Bosley TM Can J Ophthalmol 2011 Dec;46(6):477-80. doi: 10.1016/j.jcjo.2011.09.009. [ncbi.nlm.nih.gov]

For the majority of cases of Moebius syndrome, the etiology is unknown. Both genetic and environmental etiologies have been proposed. [ojrd.biomedcentral.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]

A) Etiological (Table) with three main categories: a) acquired (destructive o disruptive); b) genetically determined; and c) dysmadurative [29,30]. [neurologia.com]

Each group harbors its own founder mutation, suggesting that there is no epidemiological relationship between the diseases in these different locations. [rarediseases.org]

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]

The publication of Ungaro et al. [53] concluded that there was no clear correlation between mutations in the ROBO3 gene and the cause of progressive scoliosis, nor if the pathophysiology was related to the nervous or musculoskeletal systems. [mdpi.com]

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]

This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling. 1. [mdpi.com]

Prevent joint ankyloses or deformities and, when indicated, use orthoses. Provide maximal limb motor independence. [neurologia.com]