17q24.2 microdeletion syndrome

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17q24.2 microdeletion syndrome

Synonyms: Del(17)(q24)

A rare genetic multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay intellectual disability feeding difficulties failure to thrive growth retardation and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger 2-3 toe syndactyly) microcephaly heart defects and upper airways anomalies. Observed facial dysmorphism includes hypertelorism small narrow or downslanting palpebral fissures ptosis epicanthus ear malformations broad nasal bridge bulbous/prominent nose short philtrum thin lips retrognathia/micrognathia arched/cleft palate and dental anomalies. Additional variable manifestations include hearing and visual impairment seizures joint anomalies obesity and behavioral/psychiatric disorders.

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 February 2024

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17q24.2 microdeletion syndrome?

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