16p13.3 microduplication syndrome
Synonyms: Distal duplication 16p | Distal trisomy 16p | Dup(16)(p13.3) | Telomeric duplication 16p | Trisomy 16pter
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech) normal growth short proximally implanted thumbs and other hand and feet malformations (such as camptodactyly syndactyly club feet) mild arthrogryposis and characteristic facies (upslanting narrow palpebral fissures hypertelorism mid face hypoplasia bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism inguinal hernia and behavioral problems.
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 April 2024
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16p13.3 microduplication syndrome?
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