Chromosome 2q37 Deletion Syndrome (BDMR)

External Ids:

Disease Ontology 12 DOID:0111704 OMIM 56 600430 KEGG 36 H00561 MeSH 43 C538317 D008607 D059327 NCIt 49 C129021 SNOMED-CT 67 702357000 MESH via Orphanet 44 C538317

ICD10 via Orphanet 33 Q93.5 UMLS via Orphanet 72 C2931817 Orphanet 58 ORPHA1001 MedGen 41 C1838126 C2931817 SNOMED-CT via HPO 68 102594003 12479006 124975008 128613002 13649004 17190001 191736004 204368006 204962002 224958001 228156007 237836003 246545002 246799009 246923005 247578003 248004009 248062006 249321001 249327002 249769001 25081006 263681008 268251006 271611007 281104002 299032009 301348000 302849000 313307000 32113001 34048007 367403001 38086007 38433004 396347007 398151007 398152000 405946002 406506008 408856003 408857007 414915002 414916001 423230008 43116000 43476002 43614003 44057004 44548000 44808001 50956007 53888004 5507002 60700002 61372001 698247007 708670007 7461003 80093006 82525005 84328007 84757009 90145001 91138005 91175000 95427009 95434006 more UMLS 71 C2931817

Genetics Home Reference : ²⁵ 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 behavioral 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 tumor.

MalaCards based summary : Chromosome 2q37 Deletion Syndrome, also known as brachydactyly-mental retardation syndrome, is related to brachydactyly and pseudopseudohypoparathyroidism. An important gene associated with Chromosome 2q37 Deletion Syndrome is HDAC4 (Histone Deacetylase 4), and among its related pathways/superpathways is Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include heart, kidney and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has material basis in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.

NIH Rare Diseases : ⁵² 2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature , weak muscle tone (hypotonia ) in infancy, mild to severe intellectual disability and developmental delay , autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal lateral curvature of the spine (scoliosis ). Other findings include seizures (20%-35%), congenital heart disease, brain abnormalities (hydrocephalus , dilated ventricles), umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2 . Most cases are not inherited . Treatment depends on the symptoms and may require several specialists.

OMIM : ⁵⁶ Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015). (600430)

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷³ Brachydactyly-mental retardation syndrome: A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.

Wikipedia : ⁷⁴ 2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which... more...

Clinical features from OMIM:

600430

Search NIH Clinical Center for Chromosome 2q37 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q37 Deletion Syndrome.