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Genetic and Rare Diseases Information Center (GARD)

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2q37 deletion syndrome

Other Names for this Disease
  • Albright hereditary osteodystrophy-like syndrome
  • Brachydactyly-Mental Retardation syndrome
  • Chromosome 2q37 deletion syndrome
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What are the signs and symptoms of 2q37 deletion syndrome?

Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of those with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.[1]

Unique is a source of information and support to families and individuals affected by rare chromosome disorders. On their Web site, they have a pamphlet that provides additional information on the signs and symptoms of 2q37 deletion syndrome. Click on the link below to view this information.
Last updated: 7/7/2011

  1. 2q37 deletion syndrome. Genetics Home Reference. April 2009; Accessed 7/7/2011.