KEGG   DISEASE: Brachydactyly-mental retardation syndrome
H00561                      Disease                                
Brachydactyly-mental retardation syndrome;
Chromosome 2q37 deletion syndrome
Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.
Chromosomal abnormality
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H00561  Brachydactyly-mental retardation syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H00561  Brachydactyly-mental retardation syndrome
HDAC4 [HSA:9759] [KO:K11406]
See also H1791 Smith-Magenis syndrome.
For Albright hereditary osteodystrophy, see H00501.
Other DBs
ICD-11: LD44.20
ICD-10: Q93.5
MeSH: C538317
OMIM: 600430
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 87:219-28 (2010)
Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
Am J Hum Genet 56:400-7 (1995)

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