Moebius syndrome

Preferred Label : Moebius syndrome;

Symbol : MBS;

CISMeF acronym : MBS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MBS; Moebius sequence; Mobius syndrome;

Description : The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.;

Inheritance : Autosomal dominant; Isolated cases;

Prefixed ID : %157900;

Details

Origin ID

157900;

UMLS CUI

C0221060;

Automatic exact mappings (from CISMeF team)
- Congenital facial diplegia [HPO term]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Megabase (qualifier value) [SNOMED CT concept]
- Modified Barium Swallow [NCIt concept]
- protein phosphatase 1 regulatory subunit 12A [HGNC gene]
Currated CISMeF NLP mapping
- Charlie M syndrome [ORDO Disease]
- Congenital facial diplegia [MeSH concept]
- Mobius Syndrome [NCIt concept]
- Mobius syndrome [DO Concept]
- Moebius syndrome [PASCAL descriptor]
- Moebius syndrome [Disease (Nov.)]
- Moebius syndrome [ICD-11 More detail]
- Moebius syndrome [ORDO Disease]
- Moebius syndrome (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- congenital facial diplegia [MeSH Supplementary Concept]
- mobius syndrome [MeSH Descriptor]
- mobius syndrome [MeSH concept]
- oromandibular-limb hypogenesis spectrum [SNOMED Notion]
DO Cross reference
- Mobius syndrome [DO Concept]
False automatic mappings
- Martinique [NCIt concept]
HPO term(s)
- Abducens palsy [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormal posterior cranial fossa morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of the voice [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Clumsiness [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Decreased testicular size [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Exotropia [HPO term]
- Facial diplegia [HPO term]
- Facial paresis, usually bilateral [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Gait disturbance [HPO term]
- Hand clenching [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Isolated cases [HPO term]
- Lower limb undergrowth [HPO term]
- MRI shows congenital abnormalities of the posterior fossa [HPO term]
- Mask-like facies [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Peripheral neuropathy [HPO term]
- Pes planus [HPO term]
- Poor coordination [HPO term]
- Radial deviation of finger [HPO term]
- Respiratory distress [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Split hand [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Moebius syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charlie M syndrome [ORDO Disease]
- Mobius Syndrome [NCIt concept]
- Mobius syndrome [DO Concept]
- Mobius syndrome [MedDRA LLT]
- Moebius syndrome [Disease (Nov.)]
- Moebius syndrome [MedDRA LLT]
- Moebius syndrome (disorder) [SNOMED CT concept]
- Oculofacial paralysis [MedDRA Preferred Term]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- mobius syndrome [MeSH Descriptor]
- mobius syndrome [MeSH concept]
- oromandibular-limb hypogenesis spectrum [SNOMED Notion]

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