Moebius Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 52Orphanet, 12diseasecard, 11Disease Ontology, 13DISEASES, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Moebius Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
OMIM:50 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The... (157900) more...
MalaCards based summary: Moebius Syndrome, also known as mobius syndrome, is related to myopathy, congenital nonprogressive, with moebius sequence and robin sequence and moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome, and has symptoms including open mouth, mask-like facies and strabismus. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, bone and tongue.
NIH Rare Diseases:46 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. other cranial nerves may also be affected. there is no cure for moebius syndrome, but proper care and treatment give many individuals a normal life expectancy. last updated: 3/3/2016
NINDS:47 Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism.
Genetics Home Reference:24 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
Wikipedia:69 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...
Symptoms by clinical synopsis from OMIM:157900
Clinical features from OMIM:157900
Symptoms:52 (show all 42)
HPO human phenotypes related to Moebius Syndrome:(show all 82)
UMLS symptoms related to Moebius Syndrome:hyperacusis, facial paresis, palatal paresis, hyperexplexia
Interventional clinical trials:
Search NIH Clinical Center for Moebius Syndrome
MalaCards organs/tissues related to Moebius Syndrome:34
Eye, Bone, Tongue, Breast, Skeletal muscle, Pituitary, Heart
Articles related to Moebius Syndrome:(show top 50) (show all 120)
Search GEO for disease gene expression data for Moebius Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet