Kozlowski-Krajewska syndrome

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 K-K 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.