Kozlowski-Krajewska syndrome explained

Kozlowski-Krajewska syndrome
Synonyms:	Intellectual disability-polydactyly-uncombable hair syndrome, mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair^[1]
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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.

Notes and References

1. Web site: Kozlowski-Krajewska syndrome . 16 June 2022 .
2. Web site: Orphanet: Kozlowski Krajewska syndrome . 2022-05-14 . www.orpha.net . en.
3. Web site: Síndrome de Kozlowski-Krajewska (condición médica) - Chemwatch . 2022-05-14 . es.
4. Web site: Mental retardation-polydactyly-uncombable hair . 2022-05-14 . Global Genes . en-US.
5. Web site: Kozlowski-Krajewska syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-14 . rarediseases.info.nih.gov . en.
6. Web site: Kozlowski-Krajewska syndrome – Rare Infectious Disease News . 2022-05-14 . en-US.
7. Web site: Intellectual disability-polydactyly-uncombable hair syndrome. 2022-05-14 . en-US.