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5p13 microduplication syndrome

MedGen UID:
1663468
Concept ID:
C4749507
Disease or Syndrome
Synonym: Trisomy 5p13
SNOMED CT: Trisomy 5p13 (770793002); 5p13 microduplication syndrome (770793002)

Definition

A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). [from SNOMEDCT_US]

Recent clinical studies

Diagnosis

Kariminejad A, Ghaderi-Sohi S, Gholami S, Najafi K, Kariminejad R, Hennekam RCM
Am J Med Genet A 2023 Feb;191(2):370-377. Epub 2022 Nov 2 doi: 10.1002/ajmg.a.63030. PMID: 36322476
van Amen-Hellebrekers CJ, Jansen S, Pfundt R, Schuurs-Hoeijmakers JH, Koolen DA, Marcelis CL, de Leeuw N, de Vries BB
Eur J Med Genet 2016 Aug;59(8):373-6. Epub 2016 Jun 11 doi: 10.1016/j.ejmg.2016.06.003. PMID: 27296938
Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R
Eur J Med Genet 2013 Jan;56(1):54-8. Epub 2012 Oct 18 doi: 10.1016/j.ejmg.2012.10.002. PMID: 23085304

Clinical prediction guides

van Amen-Hellebrekers CJ, Jansen S, Pfundt R, Schuurs-Hoeijmakers JH, Koolen DA, Marcelis CL, de Leeuw N, de Vries BB
Eur J Med Genet 2016 Aug;59(8):373-6. Epub 2016 Jun 11 doi: 10.1016/j.ejmg.2016.06.003. PMID: 27296938

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