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GENATLAS PHENOTYPE

last update : 26-01-2009

Symbol	MPTLT2
Location	11p11.2
Name	multiple pterygium syndrome, lethal type 2
Corresponding gene	RAPSN
Main clinical features	intrauterine growth retardation, multiple pterygia and flexion contractures causing severe arthrogryposis, and fetal akinesia in severe cases, subcutaneous edema may be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia, cleft palate, cryptorchidism, intestinal malrotation, cardiac hypoplasia, diaphragmatic hernia, obstructive uropathy, microcephaly, or cerebellar and pontine hypoplasia can also be present.
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

Genotype/Phenotype correlations

incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype