Pena Shokeir syndrome , Type I

SYD: 2




Pena Shokeir syndrome , Type I

Description: Pena-Shokeir syndrome is an inherited disorder characterized by neurogenic arthrogryposis, facial anomalies, pulmonary hypoplasia and dysmorphic features resulting from fetal akinesia. Absent or reduced fetal movement leads to stiff joints, pterygia, and abnormal neuromuscular function with decreased fetal swallowing, which causes pulmonary hypoplasia and polyhydramnios. Autosomal-recessive is the most common pattern of transmission. Several descriptions of unusual presentations suggest a heterogenic etiology.


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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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