Common health challenges in RCPS
• Breathing problems (respiratory distress): 79% (31/39)
• Feeding problems (difficulty sucking or swallowing): 79% (30/38)
• Learning difficulties: 77% (14/18)
Face and mouth differences
• Small mouth (microstomia): 90% (38/42)
• Small lower jaw (micrognathia): 100% (42/42)
• Cleft palate or Robin sequence (opening in the roof of the mouth and/or small jaw causing breathing and feeding issues): 65% (27/41)
• Split in the lower jaw (cleft mandible): 70% (28/40)
• Missing front teeth (central incisors): 69% (23/33)
• Unusual ear shape: 94% (37/39)
• Absent or very small voice box structures (epiglottis/supraglottic area): 100% (29/29)
Hands and arms
• Small or underdeveloped thumbs: 97% (39/40)
• Small muscles at the base of the thumb or little finger: 74% (23/31)
• Small or underdeveloped little finger: 73% (27/37)
• Curved little finger: 73% (24/33)
Feet and legs
• Clubfoot (foot turned inward): 90% (38/42)
• Small or underdeveloped big toes: 89% (34/38)
• Shortness of the lower legs (mesomelia): 77% (30/39)
X-ray (radiological) findings
• Unusual fusion or split in the lower jaw bone: 75% (18/24)
• Underdeveloped first finger or thumb bones (first ray): 86% (30/35)
• Underdeveloped little finger bones (fifth ray): 73% (25/34)
• Short or abnormal shin bone (tibia): 85% (30/35)
• Short or abnormal smaller leg bone (fibula): 81% (26/32)
• Small or abnormal heel bone (calcaneus): 73% (22/30)]
EIF4A3