Kozlowski-Krajewska syndrome, also known as intellectual disability–polydactyly–uncombable hair syndrome, is a multi-systemic genetic disorder which is characterized by intellectual disability, abnormalities in the fingers and toes, uncombable hair and facial dysmorphia.
Presentation People with Kozlowski-Krajewska syndrome typically show the following symptoms:
Intellectual disability Phalangeal hypoplasia Post-axial polydactyly Toe syndactyly (affecting the 2nd and 3rd toes), also known as webbed toes Uncombable hair syndrome Frontal bossing Hypotelorism Narrow palpebral fissures Prominence of nasal root Large ears Poorly folded helix Hypoplasia of the lobule and antitragus Progressive micrognathia Cryptorchidism, hearing loss, and progressive thoracic kyphosis have also been reported.
References
