Heart-hand syndromes

{{Main|Holt–Oram syndrome}}

Heart-hand syndrome type 1 is more commonly known as Holt–Oram syndrome. Is the most prevalent form of heart-hand syndrome.

It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block.{{cite book|last=Skelley|first=Tao Le, Vikas Bhushan, Nathan William|title=First aid for the USMLE step 2 CK|date=12 March 2012|publisher=McGraw-Hill Medical|location=New York|isbn=978-0-07-176137-6|pages=357|edition=8th }}

{{Main|Berk–Tabatznik syndrome}}

Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome.{{citation needed|date=July 2016}} Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.{{cite book |editor1-first=Bruno |editor1-last=Bissonnette |editor2-first=Igor |editor2-last=Luginbuehl |editor3-first=Bernard J. |editor3-last=Dalens |year=2006 |chapter=Berk–Tabatznik Syndrome |chapter-url=https://books.google.com/books?id=uRR1MYa-w5wC&pg=PT110 |title=Syndromes: rapid recognition and perioperative implications |publisher=McGraw-Hill |location=New York |isbn=978-0-07-135455-4 |page=94}}

{{Main|Heart-hand syndrome, Spanish type}}

Heart-hand syndrome type 3 is very rare and has been described only in three members of a Spanish family. It is also known as Heart-hand syndrome, Spanish type.{{cite web|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342|title=Orphanet: Heart hand syndrome type 3|first=INSERM US14 -- ALL RIGHTS|last=RESERVED|access-date=25 July 2016}}{{cite web|url=https://rarediseases.info.nih.gov/gard/2614/heart-hand-syndrome-spanish-type/resources/9|title=Heart-hand syndrome, Spanish type - Disease - Symptoms - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|access-date=25 July 2016}}

{{Main|Heart-hand syndrome, Slovenian type}}

Several people in multiple generations have had this type. It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement.{{cite web|url=http://omim.org/entry/610140|title=OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE|access-date=25 July 2016}}

{{Main|Brachydactyly-long thumb syndrome}}

Described in one family. A unique feature in the syndrome is symmetric brachydactyly with long thumbs.{{cite web|url=http://omim.org/entry/112430|title=OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME|access-date=25 July 2016}}

{{clear}}

It has been confirmed that Patent ductus arteriosus-bicuspid aortic valve syndrome is a distinct syndrome from an allelic variant of Char syndrome. Hand anomalies include metacarpal hypoplasia.{{cite web|url=http://omim.org/entry/604381|title=OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES|access-date=25 July 2016}}

It is unknown if heart-hand syndromes are caused by shared or distinct genetic defects. It has been claimed that congenital heart diseases are caused by a limited number of shared genetic defects.

Holt–Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand syndrome, Slovenian type are known to be autosomally dominant disorders.{{citation needed|date=July 2016}}

Brachydactyly-long thumb syndrome is known to have been transmitted from male-to-male in a single instance.

• Cardiovascular disease
• Congenital heart defect
• Congenital limb deformities
• Hand deformity

{{-}}

{{Reflist}}

{{Medical resources

| DiseasesDB =

| ICD10 = {{ICD10|Q87.2}}

| ICDO =

| OMIM =

| MedlinePlus =

| MeSH =

| GeneReviewsNBK =

| GeneReviewsName =

| Orphanet = 228184

}}

{{authority control}}

Category:Rare syndromes