Growth and development |
Microcephaly | 55/55 |
Growth retardation | 55/55 |
Craniofacial features |
Receding forehead | 52/52 |
Prominent mid face with long nose and philtrum | 47/47 |
Receding mandible | 47/47 |
Epicanthic folds | 36/51 |
Sparse hair | 26/35 |
Large ears | 24/29 |
Subtle scleral telangiectasia | 8/25 |
Intelligence |
Normal intelligence | 22/55 |
Borderline to mild retardation | 28/55 |
Moderate retardation | 5/55 |
Skin abnormalities |
Café au lait spots | 18/21 |
Vitiligo spots | 14/21 |
Sun sensitivity of eyelids | 10/19 |
Pigment deposits in eye fundus | 8/17 |
Cutaneous telangiectasia | 3/32 |
Congenital malformations |
Clinodactyly | 22/34 |
Syndactyly | 12/36 |
Anal atresia | 4/55 |
Hydronephrosis | 3/55 |
Hip dysplasia | 3/55 |
Others | 10/55 |
Infections |
Bronchopneumonia | 38/50 |
Otitis | 17/33 |
Urinary tract infections | 13/20 |
Sinusitis | 9/30 |
Gastrointestinal tract infections | 3/3 |
Malignancies |
Lymphoma | 16/55 |
Leukaemia | 1/55 |
Lymphoblastic lymphoma/leukaemia | 2/55 |
Medulloblastoma | 1/55 |
Rhabdomyosarcoma | 1/55 |
Glioma | 1/55 |