Table 1 Some complex genetic syndromes with CCA as a possible feature
Syndrome | Gene (chromosomal region) | OMIM # |
|---|---|---|
Autosomal dominant | Â | Â |
Apert syndrome | FGFR2 (10q26) | 101200 |
Basal cell nevus syndrome | PTCH (9q22.3) | 109400 |
Miller-Dieker syndrome | LIS1 (17p13.3) | 247200 |
Mowat-Wilson syndrome | ZFHX1B (2q22) | 235730 |
Opitz GBBB syndrome | not defined (22q11.2) | 145410 |
Rubinstein-Taybi syndrome | CREBBP (16p13.3) EP300 (22q13) | 180849 |
Autosomal recessive | Â | Â |
Acrocallosal syndrome | GLI3 (7p13) | 200990 |
Andermann syndrome | SLC12A6 (15q13-q14) | 218000 |
DeMorsier syndrome (septo-optic dysplasia) | HESX1 (3p21.2-p21.1) | 182230 |
Fukuyama syndrome (congenital muscular dystrophy) | FCMD (9q31) | 253800 |
Joubert syndrome | AHI1 (6q23.2-q23.3) | 608629 |
Meckel-Gruber syndrome | not defined (17q22-q23) | 249000 |
Muscle-Eye-Brain disease | POMGNT1 (1p34-p33) | 253280 |
Walker-Warburg syndrome | FCMD (9q31) | 236670 |
X-linked | Â | Â |
Aicardi syndrome | not defined (Xp22) | 301040 |
FG syndrome | not defined (Xq12-q21.31) | 305450 |
Opitz GBBB syndrome | MID1 (Xp22) | 300000 |
X-linked lissencephaly | DCX (Xq22.3-q23) | 300067 |