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Table 2 Categorisation of all registered deaths < 15 years by Rare Disease category and age 2006–2016

From: A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

 

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

  1. Categories where case numbers are less than 5 have been accounted for as < 5 to avoid disclosure issues