Signs and Symptoms

• Most important is Gingival Fibromatosis which may be present at the time of birth or may develop sooner after birth
• Hypoplasia of distal phalanges
• Dysplastic Nails
• Joint Hypermobility
• Hepatosplenomegaly may be encountered in some patients
• Large and poorly developed nose and pinnae
• Other abnormal facial characteristics
• Clubbed tree frog like fingers and toes
• Hyperextensibility of Metacarpophalangeal Joints
• In some cases mental retardation may be present