Intellectual disability-polydactyly-uncombable hair syndrome

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Intellectual disability-polydactyly-uncombable hair syndrome

Synonyms: Kozlowski-Krajewska syndrome

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability postaxial polydactyly phalangeal hypoplasia 2-3 toe syndactyly uncombable hair and facial dysmorphism (including frontal bossing hypotelorism narrow palpebral fissures nasal bridge and lips prominent nasal root large abnormal ears with prominent antihelix poorly folded helix underdeveloped lobule and antitragus and micrognathia evolving into prognatism). Cryptorchidism conductive hearing loss and progressive thoracic kyphosis were also reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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