2q37 deletion syndrome
Last updated 8 Sept 2020
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2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioural problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
Description
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioural problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
Unusual physical features are also common in people with 2q37 deletion syndrome. About half of affected individuals have unusually short fingers and toes (brachydactyly), often with abnormally short fourth toes that may overlap the other toes. Additional features of this condition may include short stature, obesity, or sparse hair. Many people with 2q37 deletion syndrome have characteristic facial features that can include a prominent forehead, a low frontal hairline, thin eyelids, skin folds covering the inner corner of the eyes (epicanthal folds), outside corners of the eyes that point upward (upslanting palpebral fissures), a small nose, a small mouth with thin lips, a smooth space between the upper lip and nose (smooth philtrum), prominent cheekbones, a large chin, and minor ear abnormalities.
Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumour.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
2q37 microdeletion syndrome
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-mental retardation syndrome
Chromosome 2q37 deletion syndrome (disorder)
Deletion 2q37
Monosomy 2q37
Further reading and references
- 2q37 deletion syndrome; MedlinePlus, National Library of Medicine.
- Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet. 2004 Jun;41(6):433-9. doi: 10.1136/jmg.2003.017202. No abstract available.
- Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A. 2004 Nov 1;130A(4):331-9. doi: 10.1002/ajmg.a.30156.
- Fisch GS, Falk RE, Carey JC, Imitola J, Sederberg M, Caravalho KS, South S. Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size. Am J Med Genet A. 2016 Sep;170(9):2282-91. doi: 10.1002/ajmg.a.37782. Epub 2016 Jun 9.
- Jean-Marcais N, Decamp M, Gerard M, Ribault V, Andrieux J, Kottler ML, Plessis G. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.
- Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Gregoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.
- Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet A. 2012 Aug;158A(8):2015-20. doi: 10.1002/ajmg.a.35463. Epub 2012 Jun 29.
- Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.
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