Arthrogryposis multiplex congenita-whistling face syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000346 Whistling appearance Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0001181 Adducted thumb Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0003043 Abnormality of the shoulder Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000201 Pierre-Robin sequence Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0000174 Abnormal palate morphology Occasional (29-5%)
HP:0000364 Hearing abnormality Occasional (29-5%)
HP:0000366 Abnormality of the nose Occasional (29-5%)
HP:0001231 Abnormal fingernail morphology Occasional (29-5%)
HP:0002714 Downturned corners of mouth Occasional (29-5%)
HP:0010751 Dimple chin Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID