The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.
D000015:Abnormalities, Multiple; D001344:Autopsy; D001842:Bone and Bones / Q000002:abnormalities*; D001980:Bronchi / Q000002:abnormalities; D002356:Cartilage / Q000002:abnormalities; D004392:Dwarfism / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D005149:Facial Expression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D009135:Muscular Diseases / Q000151:congenital*; D009832:Olfactory Nerve / Q000002:abnormalities; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities