Moebius Syndrome (MBS) malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 65Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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.
MalaCards based summary: Moebius Syndrome, also known as congenital facial diplegia, is related to mobius syndrome and myocardial infarction, and has symptoms including expressionless face/amimia, facial palsy and strabismus/squint. An important gene associated with Moebius Syndrome is KIF21A (kinesin family member 21A), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Selected targets of Oct 3 4. Affiliated tissues include eye, tongue and bone, and related mouse phenotype mortality/aging.
NIH Rare Diseases:42 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: 7/15/2013
Genetics Home Reference:21 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:65 M more...
Description from OMIM:46 157900
Moebius Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy
Symptoms by clinical synopsis from OMIM:157900
Clinical features from OMIM:157900
Symptoms:48 (show all 43)
HPO human phenotypes related to Moebius Syndrome:(show all 90)
MalaCards organs/tissues related to Moebius Syndrome:32
Eye, Tongue, Bone, Breast, Olfactory bulb, Pituitary, Heart
Articles related to Moebius Syndrome:(show top 50) (show all 108)
Clinvar genetic disease variations for Moebius Syndrome:6
Search GEO for disease gene expression data for Moebius Syndrome.
Pathways related to Moebius Syndrome according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet