(A) Monogenic syndromes
| |
(1) Fragile X syndrome (OMIM 309550) | 1 |
(2) Sturge-Weber syndrome (OMIM 185300) | 1 |
(3) Tuberous sclerosis (OMIM 191100) | 1 |
(4) Beckwith-Wiedemann syndrome (OMIM 13 650) | 1 |
(5) Apert-acrocephalosyndactyly type I (OMIM 101200) | 1 |
(6) Menkes syndrome (OMIM 309400) | 1 |
(7) Kartagener syndrome (OMIM 244400) | 1 |
(8) Poland syndrome with left cleft hand (OMIM 173800) | 1 |
(9) Cystic fibrosis (OMIM 219700) | 1 |
(10) Fumoryl acetoacetase deficiency (OMIM 276700) with Dandy-Walker malformation/arachnoidal cyst | 1 |
(11) X linked agammaglobulinaemia (OMIM 300300) | 1 |
(12) Rett syndrome (OMIM 312750) | 1 |
| |
(B) MCA/MR syndromes – sequences
| |
(1) MCA/MR syndrome with cardiopathy (VSD), bilateral pes equinovarus, facial dysmorphism, congenital torticollis | 1 |
(2) VACTERL association with radial hypoplasia, asymmetrical scapulae, left kidney dysplasia, vertebral anomaly (S3), low implanted thumbs | 1 |
(3) Infant with lethargy, thrombocytopenia, anaemia, and fatty liver, medium-long chain acyl Co a dehydrogenase deficiency not confirmed | 1 |
(4) Congenital diaphragmatic hernia (CDH) (right) with cystic renal dysplasia | 1 |
(5) MCA/MR syndrome with craniosynostosis-cerebellar cyst-hydrocephalus | 1 |
(6) Holoprosencephaly sequence with hypotelorism, median cleft lip and cleft palate | 1 |
(7) Pierre-Robin sequence | 1 |
(8) MR syndrome with olivopontocerebellar atrophy | 1 |
(9) Progressive encephalopathy* | 1 |
(10) MCA syndrome with agenesis of the corpus callosum, bilateral cleft lip, and clenched hands | 1 |
(11) MR syndrome with cardiopathy (truncus arteriosus) and facial dysmorphism | 1 |