Medicine:Kozlowski-Krajewska syndrome
From HandWiki
| 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 |
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]
Presentation
People 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
- ↑ "Kozlowski-Krajewska syndrome". 16 June 2022. https://rarediseases.org/gard-rare-disease/kozlowski-krajewska-syndrome/.
- ↑ "Orphanet: Kozlowski Krajewska syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3484&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3082&Disease(s)/group%20of%20diseases=Kozlowski-Krajewska-syndrome&title=Kozlowski-Krajewska-syndrome&search=Disease_Search_Simple.
- ↑ "Síndrome de Kozlowski-Krajewska (condición médica) - Chemwatch" (in es). https://www.chemwatch.net/es/resource-center/kozlowski-krajewska-syndrome-medical-condition/.
- ↑ "Mental retardation-polydactyly-uncombable hair" (in en-US). https://globalgenes.org/disease/mental-retardation-polydactyly-uncombable-hair/.
- ↑ "Kozlowski-Krajewska syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/3141/kozlowski-krajewska-syndrome.
- ↑ "Kozlowski-Krajewska syndrome – Rare Infectious Disease News" (in en-US). https://www.rareidnews.com/rarediseases/kozlowski-krajewska-syndrome/.
- ↑ "Intellectual disability-polydactyly-uncombable hair syndrome" (in en-US). https://rarediseases.oscar.ncsu.edu/disease/intellectual-disability-polydactyly-uncombable-hair-syndrome/about/.
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