Hypoplasia of mandible & Hypogonadism AD Almost all metatarsals & Dysmorphic facies MDPL de fat lost Joint contractures IR/DM Sensori-neural cryptorchidism Short stature Visc. Skin atrophy N N (POLD1) in soles carpal bones deafness (♂) Cataracts ↓ ↑TG Scleroderma of feet Dental crowding Hypoplastic High-pitched voice Normal hair Osteoporosis breasts(♀) mass ↓muscle Dysmorphic facies Aged appearance Delayed dental Almost all IR/DM Sensori-neural IUGR SHORT Thin, eruption Heart AD fat lost None hearing loss N Inguinal hernia Short stature (PIK3R1) wrinkled skin laxity (most TG Speech Glaucoma Micrognathia Rieger anomaly Cataracts Marfan syndrome with AD Arthrogryposis neonatal Dysmorphic facies de Almost all Alopecia Arachno-dactyly Relative progeroid Birth None Aortic root N N N N Aged appearance fat lost Atrophic skin Hyperlaxity dilatation Myopia fontanels (FBN1)
MDPL (POLD1) AD de Almost all fat lost ↓ in soles of feet Visc. Skin atrophy Scleroderma Normal hair Hypoplasia of mandible & metatarsals Joint contractures carpal bones Dental crowding Osteoporosis ↓muscle mass N IR/DM ↑TG N Sensori-neural deafness Hypogonadism & cryptorchidism (♂) Hypoplastic breasts(♀) Dysmorphic facies Short stature Cataracts High-pitched voice SHORT (PIK3R1) AD Almost all fat lost (most None Thin, wrinkled skin Delayed dental eruption laxity Micrognathia Heart IR/DM TG Sensori-neural hearing loss Speech N Inguinal hernia Dysmorphic facies Aged appearance IUGR Short stature Glaucoma Rieger anomaly Cataracts Marfan syndrome with neonatal progeroid (FBN1) AD de Birth Almost all fat lost None Alopecia Atrophic skin Arthrogryposis Arachno-dactyly Hyperlaxity fontanels Aortic root dilatation N N Relative N N Dysmorphic facies Aged appearance Myopia
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