A syndrome of ankylosis, facial anomalies and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000844:Ankylosis / Q000150:complications*; D001176:Arthrogryposis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009468:Neuromuscular Diseases / Q000150:complications / Q000151:congenital*; D010375:Pedigree; D013577:Syndrome