Types of malformations | Code ICD | Number | Isoleted cases N (%) | Associated cases N (%) | Incidence/1000 births |
---|---|---|---|---|---|
SKELETAL MALFORMATIONS (91) | 4.3 | ||||
Polydactyly | Q69 | 45 | 38 (84.4) | 7 (15.6) | 2.1 |
Club foot | Q66.0 | 24 | 12 (50) | 12 (50) | 1.1 |
Micromelia | 6 | 0 (0) | 6 (100) | ||
Macrocephaly | Q75.3 | 4 | 0 (0) | 4 (100) | |
Muscular atrophy of the lower limbs | 3 | 0 (0) | 3 (100) | ||
ectrodactyly | Q71.6 | 3 | 2 (66.7) | 1 (33.3) | |
Varus feet | 3 | 3 (100) | 0 (0) | ||
Ankylosis of the knee | 3 | 1 (33.3) | 2 (66.7) | ||
Syndactyly | Q70 | 2 | 2 (100) | 0 (0) | |
Agenesis of fingers or toes | 2 | 0 (0) | 2 (100) | ||
Convex foot | 1 | 1 (100) | 0 (0) | ||
Phocomelia | Q73.1 | 1 | 0 (0) | 1 (100) | |
MALFORMATIONS OF CNS* (46) | 2.2 | ||||
NTD | 29 | 1.4 | |||
Myelomeningocel | Q05 | 16 | 6 (37.5) | 10 (62.5) | |
Meningocel | Q05 | 1 | 0 (0) | 1 (100) | |
Anencephaly | Q00.0 | 8 | 8 (100) | 0 (0) | |
Encephalocel | Q01 | 4 | 3 (75) | 1 (25) | |
HYDROCEPHALUS | Q03 | 24 | 13 (54.2) | 11 (45.8) | 1.1 |
MICROCEPHALIA | Q02 | 4 | 2 (50) | 2 (50) | |
GASTROINTESTINAL MALFORMATIONS (44) | 2.1 | ||||
OROFACIAL CLEFT | 18 | 0.9 | |||
Cleft lip | Q36 | 6 | 6 (100) | 0 (0) | |
Labio-palatal cleft | Q37 | 11 | 7 (63.6) | 4 (36.4) | |
Palatal cleft | Q35 | 1 | 1 (100) | 0 (0) | |
ABDOMINAL PARIETAL DEFECT | 15 | 0.7 | |||
Omphalocele | Q79.2 | 10 | 5(50) | 5(50) | |
Gastroschisis | Q79.3 | 5 | 5(100) | 0(0) | |
OTHER DIGESTIVES MALFORMATIONS | |||||
Imperforate anal | Q42.3 | 6 | 4 (66.7) | 2 (33.3) | |
Macroglossia | Q38.2 | 5 | 0(0) | 5 (100) | |
Salivary froglet | K11.6 | 1 | 1 (100) | 0 (0) | |
UROGENITAL MALFORMATIONS (25) | 1.2 | ||||
Sexual ambiguity | Q56.4 | 11 | 7 (63.3) | 4 (36.7) | |
Hypospadias | Q54 | 6 | 6 (100) | 0(0) | |
Absence of external genitalia | 4 | 0 (0) | 4 (100) | ||
EYE, EAR, FACE AND NECK MALFORMATIONS (24) | 1.1 | ||||
Facial dysmorphism | Q67.0 | 9 | 2 (22.2) | 7 (77.8) | |
Low implanted ears | Q17.4 | 5 | 1 (20) | 4 (80) | |
Arrhinia | 3 | 0 (0) | 3 (100) | ||
Anophthalmos | Q11 | 2 | 0 (0) | 2 (100) | |
Hypotelorism | 3 | 1 (33.3) | 2 (66.7) | ||
Proboscis | 2 | 0 (0) | 2(100) | ||
Synophthalmia | 1 | 0 (0) | 1 (100) | ||
Exophthalmos | 1 | 1 (100) | 0 (0) | ||
Cervical teratomas | 1 | 1 (100) | 0 (0) | ||
Eversions of the eyelids | 1 | 1 (100) | 0 (0) | ||
VASCULAR MALFORMATIONS (5) | 5 | 0.2 | |||
Lymphangioma | D18.1 | 4 | 4 (100) | 0 (0) | |
Hemangioma | D18.04 | 1 | 1 (100) | 0 (0) |