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.[2][3][4]
| 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[1] |
| Specialty | Medical genetics |
Presentation
editPeople with K-K syndrome typically show the following symptoms:[5][6][7]
- 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
edit- ^ "Kozlowski-Krajewska syndrome". 16 June 2022.
- ^ "Orphanet: Kozlowski Krajewska syndrome". www.orpha.net. Retrieved 2022-05-14.
- ^ "Síndrome de Kozlowski-Krajewska (condición médica) - Chemwatch" (in Spanish). Retrieved 2022-05-14.
- ^ "Mental retardation-polydactyly-uncombable hair". Global Genes. Retrieved 2022-05-14.
- ^ "Kozlowski-Krajewska syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-14.
- ^ "Kozlowski-Krajewska syndrome – Rare Infectious Disease News". Retrieved 2022-05-14.
- ^ "Intellectual disability-polydactyly-uncombable hair syndrome". Retrieved 2022-05-14.
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