Kozlowski-Krajewska syndrome
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| Kozlowski-Krajewska syndrome | |
|---|---|
| Other names | Intellectual disability-polydactyly-uncombable hair syndrome, mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair |
| Specialty | Medical genetics |
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.