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 September 2023.
Newly diagnosed with
16p13.3 microduplication syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.