Table 4.
National BP Rates of most birth-prevalent rare diseases and rare disease groups monitored by RNMR in the Italian population. Rates in live births of the two-year period 2012–2013.
| ORPHA Code | Disease Name | Birth Prevalence (/100,000) |
|---|---|---|
| 870 | Down syndrome | 35.00 |
| - | Esophageal atresia and/or Isolated tracheo-esophageal fistula | 6.67 |
| 96,346 | Anorectal malformation | 6.37 |
| 3451 | West syndrome | 5.69 |
| 388 | Hirschsprung disease | 4.22 |
| 739 | Prader-Willi syndrome | 3.63 |
| - | Biliary atresia | 3.14 |
| 805 | Tuberous sclerosis | 2.84 |
| 116 | Beckwith-Wiedemann syndrome | 2.65 |
| 648 | Noonan syndrome | 2.45 |
| 881 | Turner syndrome | 1.96 |
| 1203 | Duodenal atresia | 1.86 |
| 374 | Goldenhar syndrome | 1.67 |
| 1201 | Atresia of small intestine | 1.67 |
| 290 | Congenital rubella syndrome | 1.47 |
| 904 | Williams syndrome | 1.47 |
| - | Epidermolysis bullosa | 1.37 |
| 2911 | Poland syndrome | 1.27 |
| 2368 | Gastroschisis | 1.18 |
| 138 | CHARGE syndrome | 1.18 |
| - | Lissencephaly | 1.08 |
| 98,861 | Primary ciliary dyskinesia, Kartagener type | 1.08 |
| 464 | Incontinentia pigmenti | 0.78 |
| 887 | VACTERL/VATER association | 0.78 |
| - | Congenital colobomatous optic disc | 0.69 |
| 3205 | Sturge-Weber syndrome | 0.69 |
| - | Alagille syndrome | 0.69 |
| 2162 | Holoprosencephaly | 0.59 |
| 1896 | EEC syndrome | 0.59 |
| 205 | Crigler-Najjar syndrome | 0.59 |
| 77 | Aniridia | 0.49 |
| 70,590 | Infantile apnea | 0.49 |
| 1915 | Fetal alcohol syndrome | 0.39 |
| 199 | Cornelia de Lange syndrome | 0.39 |
| 908 | Fragile X syndrome | 0.39 |
| 90,308 | Klippel-Trénaunay syndrome | 0.39 |
| 912 | Zellweger syndrome | 0.29 |
| 570 | Moebius syndrome | 0.29 |
| 199,642 | Microcephaly | 0.29 |
| 281 | Cri du chat syndrome | 0.29 |
| 783 | Rubinstein-Taybi syndrome | 0.29 |
| 380 | Greig cephalopolysyndactyly syndrome | 0.20 |
| 280 | Wolf-Hirschhorn syndrome | 0.20 |
| 813 | Silver-Russell syndrome | 0.20 |
| 475 | Joubert syndrome | 0.20 |
| 884 | Pallister-Killian syndrome | 0.20 |
| 3157 | De Morsier syndrome | 0.20 |
| 974 | Adams-Oliver syndrome | 0.20 |
| 726 | Alpers syndrome | 0.20 |
| 435 | Ito hypomelanosis | 0.20 |
| Disease Group Name | ||
| - | Disturbances of aminoacid transport and metabolism | 30.10 |
| - | Congenital craniofacial anomalies | 21.57 |
| - | Chromosomal duplication/deficiency syndromes | 8.73 |
| - | Disturbances of carbohydrate transport and metabolism, excluded diabetes mellitus | 5.39 |
| - | Neurofibromatoses | 3.92 |
| - | Congenital chondrodystrophies | 3.53 |
| - | Congenital ichthyoses | 2.94 |
| - | Other congenital anomalies with intellectual disability | 2.84 |
| - | Chromosomal aneuploidy syndromes | 2.55 |
| - | Urea cycle disturbances | 1.18 |