Table 2.
Categorisation of all registered deaths < 15 years by Rare Disease category and age 2006–2016
| Neonatal (0–28 days) | Post-neonatal (29 days < 1 year) | Children (1–14 years) | Total | |
|---|---|---|---|---|
| CATEGORY | Number of cases (%) | Number of cases (%) | Number of cases (%) | |
| Rare disease | (n) | (n) | (n) | |
| BIRTH DEFECTS | 588 [51.58%] | 147 [32.67%] | 93 [11.95%] | 828 |
| Rare development defect during embryogenesis | ||||
| Anencephaly | (93) | (< 5) | – | |
| Multiple congenital anomalies | (73) | (11) | – | |
| Renal agenesis | (52) | – | – | |
| Congenital diaphragmatic hernia | (38) | (10) | (< 5) | |
| Hydrops fetalis | (13) | – | – | |
| Holoprosencephaly | (11) | (< 5) | (< 5) | |
| Omphalocele | (9) | – | – | |
| VACTERL/VATER association | (8) | – | (< 5) | |
| Esophageal atresia | (8) | (< 5) | – | |
| Spina bifida | (8) | (< 5) | (7) | |
| Congenital hydrocephalus | (6) | (< 5) | (5) | |
| Renal hypoplasia | (5) | – | (< 5) | |
| Other defect during embryogenesis | (116) | (28) | (4) | |
| Rare congenital heart malformations | ||||
| Hypoplastic left heart | (67) | (22) | (7) | |
| Tetralogy of fallot | (6) | (< 5) | (< 5) | |
| Truncus arteriosus | (5) | (< 5) | – | |
| Ebstein malformation | (< 5) | (< 5) | (< 5) | |
| Congenital valvular dysplasia | (< 5) | (< 5) | – | |
| Aorta coarctation | (< 5) | (< 5) | (< 5) | |
| Other rare congenital heart malformation | (61) | (53) | (19) | |
| RARE GENETIC | 346 [30.3%] | 192 [42.67%] | 249 [32.01%] | 787 |
| Chromosomal anomaly | ||||
| Trisomy 18 | (114) | (31) | (< 5) | |
| Trisomy 21 | (29) | (36) | (22) | |
| Trisomy 13 | (64) | (10) | (< 5) | |
| 22q11.2 deletion syndrome | (6) | (< 5) | (< 5) | |
| Pallister-Killian syndrome | (< 5) | (< 5) | (< 5) | |
| Triploidy | (< 5) | – | – | |
| Wolf-Hirschhorn syndrome | (< 5) | – | (< 5) | |
| Turner syndrome | (< 5) | (< 5) | – | |
| Other chromosomal anomaly | (21) | (16) | (27) | |
| Inborn errors of metabolism | ||||
| Mitochondrial disease | (6) | (7) | (21) | |
| Alpers syndrome | – | – | (11) | |
| Leigh syndrome | (< 5) | (< 5) | (10) | |
| Batten disease | – | – | (< 5) | |
| Hurler syndrome | – | (< 5) | (< 5) | |
| Other inborn errors of metabolism | (9) | (24) | (30) | |
| Rare neurologic disease | ||||
| Schizencephaly | – | – | (6) | |
| Spinal Muscular Atrophy | – | (17) | (6) | |
| Muscular dystrophy | (< 5) | – | (6) | |
| Rett syndrome | – | – | (6) | |
| Aicardi-Goutieres Syndrome | – | – | (< 5) | |
| Other rare neurologic disease | – | (16) | (29) | |
| Cystic Fibrosis | – | (<5) | (11) | |
| Rare endocrine disease | (< 5) | – | (5) | |
| Rare hematologic disease | (5) | (< 5) | (5) | |
| Rare immune disease | – | (5) | ||
| Other rare genetic | (86) | (24) | (29) | |
| RARE NEOPLASTIC | 10 [0.88%] | 11 [2.44%] | 265 [34.06%] | 286 |
| Acute lymphoblastic leukemia | – | (< 5) | (27) | |
| Neuroblastoma | – | – | (26) | |
| Rhabdoid tumour | – | (< 5) | (6) | |
| Medulloblastoma | (< 5) | – | (12) | |
| Glioma | (< 5) | (< 5) | (11) | |
| Astrocytoma | (< 5) | (< 5) | (12) | |
| Teratoma | (< 5) | – | – | |
| Other rare neoplastic | (4) | (2) | (171) | |
| RARE INFECTIOUS | 116 [10.18%] | 43 [9.56%] | 39 [5.01%] | 198 |
| Sepsis in premature infants | (102) | (27) | (< 5) | |
| Meningitis | (< 5) | (9) | 28 | |
| Pertussis | – | (6) | – | |
| Congenital Herpes simplex virus infection | (< 5) | – | (< 5) | |
| Congenital toxoplasmosis | (< 5) | – | – | |
| Fetal cytomegalovirus syndrome | (< 5) | – | (< 5) | |
| Other rare infectious | (4) | (1) | (8) | |
| OTHER | 80 [7.02%] | 57 [12.67%] | 132 [16.97%] | 269 |
| Cardiomyopathy | (12) | (20) | (25) | |
| Cerebral Palsy | – | (< 5) | (52) | |
| Epilepsy | – | (< 5) | (23) | |
| Other rare disease | (68) | (30) | (32) | |
| TOTAL | 1140 [100%] | 450 [100%] | 778 [100%] | 2368 |
Categories where case numbers are less than 5 have been accounted for as < 5 to avoid disclosure issues