Moebius Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 51Orphanet, 10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
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Aliases & Descriptions for Moebius Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Age of onset: Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
ICD10: 28 27
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
OMIM:49 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 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome and congenital nonprogressive myopathy with moebius and robin sequences, and has symptoms including abnormality of the voice, ophthalmoparesis and ptosis. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are normal and digestive/alimentary.
Genetics Home Reference:23 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.
NIH Rare Diseases:45 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:46 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.
Wikipedia:68 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:51 (show all 43)
HPO human phenotypes related to Moebius Syndrome:(show all 82)
UMLS symptoms related to Moebius Syndrome:hyperexplexia, palatal paresis, facial paresis, hyperacusis
Interventional clinical trials:
Search NIH Clinical Center for Moebius Syndrome
MalaCards organs/tissues related to Moebius Syndrome:33
Eye, Bone, Tongue, Breast, Lung, Heart, Skeletal muscle
MGI Mouse Phenotypes related to Moebius Syndrome:38
Articles related to Moebius Syndrome:(show top 50) (show all 117)
Search GEO for disease gene expression data for Moebius Syndrome.
Biological processes related to Moebius Syndrome according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Moebius Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet