- Source: 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.
