Table 1.
Age at symptoms onset of selected rare diseases monitored by RNMR. Dataset: Subset 1; Origin of notifications: all Regions; Record selection: records with diagnosis indicating a specific disease (i.e., excluding disease groups) and at least four records with valid onset date per disease; Total records: 84,859.
| RNMR Code | ORPHA Code | Disease | Records (N) | Median Onset Age (Years) | Life Stages Reported by ORPHANET [24] |
|---|---|---|---|---|---|
| RNG040 | 1791 | Frontofacionasal dysplasia | 7 | −0.28 | Neonatal |
| RN0490 | 3447 | Weaver syndrome | 7 | −0.23 | Neonatal, Antenatal |
| RNG030 | 87 | Apert syndrome | 13 | −0.18 | Antenatal, Neonatal |
| RNG040 | 2108 | Hallermann-Streiff syndrome | 9 | −0.17 | Neonatal, Infancy |
| RP0040 | 1915 | Fetal alcohol syndrome | 56 | −0.14 | Antenatal, Neonatal |
| RNG070 | 313 | Lamellar ichthyosis | 60 | −0.11 | Neonatal |
| RN0400 | 1540 | Jackson-Weiss syndrome | 12 | −0.10 | Neonatal |
| RNG040 | 207 | Crouzon disease | 43 | −0.09 | Infancy, Neonatal |
| RN1150 | 1340 | Cardiofaciocutaneous syndrome | 54 | −0.06 | Antenatal, Neonatal |
| RN0640 | 1114 | Aplasia cutis congenita | 14 | −0.06 | Antenatal, Neonatal |
| RFG010 | 141 | Canavan disease | 6 | −0.06 | Neonatal, infancy (severe form); childhood (mild form) |
| RNG040 | 1452 | Cleidocranial dysostosis | 7 | −0.05 | Neonatal |
| RCG060 | 352 | Galactosemia | 58 | −0.05 | Infancy, Neonatal, Childhood |
| RN0130 | 35,737 | Morning glory syndrome | 10 | −0.05 | Childhood |
| RNG050 | 429 | Hypochondroplasia | 7 | −0.05 | Childhood |
| RP0010 | 290 | Congenital rubella syndrome | 31 | −0.05 | Antenatal, Neonatal |
| RN0390 | 380 | Greig cephalopolysyndactyly syndrome | 15 | −0.04 | Neonatal |
| RDG020 | 326 | Factor V deficiency | 24 | −0.04 | All ages |
| RN0100 | 708 | Peters anomaly | 12 | −0.04 | Infancy, Neonatal |
| RCG040 | 238,583 | Hyperphenylalaninemia | 673 | −0.04 | Neonatal, Infancy |
| RN1040 | 710 | Pfeiffer syndrome | 10 | −0.03 | Antenatal, Neonatal |
| RN1530 | 500 | LEOPARD syndrome | 37 | −0.03 | Childhood |
| RCG040 | 407 | Non-ketotic hyperglycinemia | 6 | −0.03 | Infancy, Neonatal |
| RCG060 | 348 | Fructose-1,6-bisphosphatase deficiency | 4 | −0.03 | All ages |
| RN0510 | 464 | Incontinentia pigmenti | 74 | −0.03 | Neonatal |
| RN1640 | 1466 | COFS syndrome | 6 | −0.03 | Neonatal, Antenatal |
| RN1760 | 912 | Zellweger syndrome | 13 | −0.02 | Neonatal |
| RNG070 | 461 | Recessive X-linked ichthyosis | 60 | −0.02 | Neonatal |
| RP0060 | 415,286 | Bilirubin encephalopathy | 7 | −0.02 | Neonatal |
| RCG050 | 23 | Argininosuccinatelyase deficiency | 12 | −0.02 | Neonatal, All ages |
| RN0910 | 374 | Goldenhar syndrome | 187 | −0.02 | Neonatal, Antenatal |
| RN0600 | 312 | Epidermolytic ichthyosis | 32 | −0.02 | Neonatal |
| RDG020 | 327 | Factor VII deficiency | 98 | −0.02 | All ages |
| RN0990 | 570 | Moebius syndrome | 52 | −0.02 | Neonatal |
| RN0320 | 2368 | Gastroschisis | 57 | −0.02 | Neonatal, Antenatal |
| RDG020 | 328 | Factor X deficiency | 9 | −0.02 | All ages |
| RN0700 | 280 | Wolf-Hirschhorn syndrome | 64 | −0.02 | Neonatal, Antenatal |
| RN1080 | 813 | Silver-Russell syndrome | 85 | −0.02 | Neonatal, Antenatal |
| RN0180 | 1203 | Duodenal atresia | 75 | −0.02 | Antenatal, Neonatal, Infancy, Childhood |
| RN0540 | 1556 | Cutis marmorata telangiectatica congenita | 21 | −0.02 | Neonatal |
| RCG040 | 511 | Maple syrup urine disease | 26 | −0.02 | Infancy, Neonatal, Childhood |
| RNG070 | 634 | Netherton syndrome | 17 | −0.01 | Infancy, Neonatal |
| RN1100 | 808 | Seckel syndrome | 11 | −0.01 | Neonatal, Antenatal |
| RN1310 | 739 | Prader-Willi syndrome | 388 | −0.01 | Neonatal, Antenatal |
| RCG040 | 35 | Propionic acidemia | 4 | −0.01 | Infancy, Neonatal |
| RN0080 | 1764 | Familial dysautonomia | 6 | −0.01 | Neonatal, Antenatal |
| RDG020 | 331 | Factor XIII deficiency | 5 | −0.01 | All ages |
| RN0850 | 138 | CHARGE syndrome | 116 | −0.01 | Neonatal |
| RCG040 | 293,355 | Methylmalonic acidemia | 11 | −0.01 | All ages |
| RN1170 | 744 | Proteus syndrome | 19 | −0.01 | Infancy |
| RN0170 | 1201 | Atresia of small intestine | 77 | −0.01 | Neonatal |
| RN1140 | 107 | Branchio-oto-renal syndrome | 35 | −0.01 | All ages |
| RN1250 | 887 | VACTERL/VATER association | 80 | −0.01 | Neonatal |
| RN1410 | 199 | Cornelia de Lange syndrome | 74 | −0.01 | Neonatal, Antenatal |
| RN0930 | 392 | Holt-Oram syndrome | 23 | −0.01 | Neonatal |
| RDG020 | 98,878 | Hemophilia A | 1209 | −0.01 | Infancy, Neonatal |
| RDG020 | 98,879 | Hemophilia B | 202 | 0.00 | Infancy, Neonatal |
| RN1740 | 899 | Walker-Warburg syndrome | 6 | 0.00 | Infancy, Neonatal |
| RN1010 | 648 | Noonan syndrome | 459 | 0.00 | Neonatal |
| RN0430 | 2911 | Poland syndrome | 299 | 0.00 | Infancy, Neonatal |
| RDG020 | 745 | Protein C deficiency | 233 | 0.00 | Childhood |
| RN0200 | 388 | Hirschsprung disease | 244 | 0.00 | Infancy, Neonatal |
| RN0060 | 2162 | Holoprosencephaly | 46 | 0.00 | Neonatal, Antenatal |
| RN1240 | 857 | Townes-Brocks syndrome | 8 | 0.00 | All ages |
| RN1130 | 1297 | Branchio-oculo-facial syndrome | 7 | 0.00 | Neonatal |
| RNG060 | 1522 | Craniometaphyseal dysplasia | 11 | 0.00 | Childhood |
| RN1210 | 819 | Smith-Magenis syndrome | 45 | 0.00 | Infancy, Neonatal |
| RN0890 | 2053 | Freeman-Sheldon syndrome | 9 | 0.00 | Neonatal |
| RCG050 | 187 | Citrullinemia | 10 | 0.00 | Neonatal, Adult |
| RN0360 | 1465 | Coffin-Siris syndrome | 13 | 0.00 | Neonatal |
| RN0410 | 2311 | Jarcho-Levin syndrome | 11 | 0.00 | Neonatal, Antenatal |
| RN0280 | 950 | Acrodysostosis | 12 | 0.00 | Neonatal, Antenatal |
| RN1660 | 35,125 | Epidermal nevus syndrome | 15 | 0.00 | Childhood, Adolescent, Adult |
| RNG040 | 861 | Treacher-Collins syndrome | 16 | 0.00 | Neonatal |
| RN1450 | 94,068 | Congenital spondyloepiphyseal dysplasia | 14 | 0.00 | Neonatal |
| RNG060 | 289 | Ellis-Van Creveld syndrome | 8 | 0.00 | Neonatal, Antenatal |
| RN1590 | 884 | Pallister-Killian syndrome | 16 | 0.00 | Neonatal, Antenatal |
| RN0670 | 281 | Cri du chat syndrome | 46 | 0.00 | Neonatal |
| RN0790 | 915 | Aarskog-Scott syndrome | 28 | 0.00 | Childhood |
| RN0940 | 2322 | Kabuki make-up syndrome | 112 | 0.00 | Infancy, Neonatal |
| RN0040 | 475 | Joubert syndrome | 96 | 0.00 | Neonatal, Antenatal |
| RN1270 | 904 | Williams syndrome | 316 | 0.00 | Neonatal, Antenatal |
| RCG160 | 567 | Di George syndrome | 359 | 0.00 | Neonatal |
| RN1620 | 783 | Rubinstein-Taybi syndrome | 63 | 0.00 | All ages |
| RN1380 | 110 | Bardet-Biedl syndrome | 51 | 0.00 | Infancy, Neonatal, Antenatal |
| RN0660 | 870 | Down syndrome | 2283 | 0.00 | Antenatal, Neonatal |
| RN0680 | 881 | Turner syndrome | 947 | 0.00 | Infancy, Neonatal, Antenatal, Childhood |
| RN0770 | 3205 | Sturge-Weber syndrome | 134 | 0.00 | Infancy, Neonatal, Childhood, Adolescent |
| RN1330 | 908 | Fragile X syndrome | 288 | 0.00 | Neonatal, Infancy, Childhood |
| RN1510 | 90,308 | Klippel-Trénaunay syndrome | 170 | 0.00 | Infancy, Childhood, Adolescent |
| RN0110 | 77 | Aniridia | 69 | 0.00 | Infancy, Neonatal |
| RFG050 | 83,330 | Werdnig-Hoffman disease | 13 | 0.00 | Infancy, Neonatal |
| RCG040 | 26 | Methylmalonic acidemia with homocystinuria | 16 | 0.00 | All ages |
| RN0860 | 3157 | De Morsier syndrome | 46 | 0.00 | Infancy, Neonatal |
| RN1400 | 191 | Cockayne syndrome | 6 | 0.01 | All ages |
| RN1430 | 220 | Denys-Drash syndrome | 5 | 0.02 | Infancy, Neonatal |
| RN0240 | 2138 | True hermaphroditism | 17 | 0.02 | Infancy, Neonatal |
| RN1190 | 2614 | Nail-patella syndrome | 33 | 0.02 | Neonatal, Infancy, Childhood |
| RN0340 | 974 | Adams-Oliver syndrome | 11 | 0.02 | Neonatal |
| RDG020 | 903 | Von Willebrand disease | 800 | 0.02 | All ages |
| RC0180 | 205 | Crigler-Najjar syndrome | 27 | 0.04 | Neonatal |
| RN1730 | 893 | WAGR syndrome | 8 | 0.07 | Neonatal |
| RN0950 | 98,861 | Primary ciliary dyskinesia, Kartagener type | 345 | 0.08 | Neonatal, infancy |
Note: This table reports pathologies ordered by increasing median age at onset. The number of records is indicated with the only aim of allowing a better assessment of the statistical data presented and cannot be used as an indication of the disease or exemption code frequency.