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arthrogryposis multiplex congenita-whistling face syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008825

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. [ Orphanet:1150 ]

Term info

database cross reference
  • GARD:0000792 (MONDO:equivalentTo)
  • MESH:C538401 (Orphanet:1150/e)
  • OMIM:208155 (Orphanet:1150/e)
  • SCTID:720514008 (MONDO:equivalentTo)
  • UMLS:C1859711 (Orphanet:1150/e)
  • Orphanet:1150 (OMIM:208155)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
arthrogryposis, whistling face, and developmental retardation [ OMIM:208155 ]

definition

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859711, http://purl.obolibrary.org/obo/Orphanet_1150, http://identifiers.org/mesh/C538401, http://identifiers.org/snomedct/720514008, https://omim.org/entry/208155

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

has exact synonym

Illum syndrome

has related synonym

arthrogryposis, whistling face, and developintellectual disability, arthrogryposis multiplex congenita whistling face, arthrogryposis, whistling face, and developmental retardation, ILLUM syndrome, lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

id

MONDO:0008825

Term relations