Heart–hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and a limb malformation1. The most common type of HHS is Holt–Oram syndrome (HOS) with an estimated incidence of 1/100 0002.
What causes Holt-Oram syndrome?
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth.
How does Holt-Oram syndrome affect the heart?
About 75% of people who have Holt-Oram syndrome have heart problems. The most common problems are holes in the walls that separate the heart into four areas (chambers). These heart defects are known as atrial septal defects (ASD) or ventricular septal defects (VSD) depending on the exact location of the hole.
What is Amelia and Phocomelia?
Phocomelia, or amelia, is a rare condition that causes very short limbs. It’s a type of congenital disorder. This means it’s present at birth. Phocomelia can vary in type and severity. The condition might affect one limb, the upper or lower limbs, or all four limbs.
Is Brachydactyly a disability?
Brachydactyly -mesomelia- intellectual disability -heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay , intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower
What is Rubinstein Taybi syndrome?
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
How do they fix a hole in your heart?
Cardiac catheterization. Doctors insert a thin, flexible tube (catheter) into a blood vessel in the groin and guide it to the heart using imaging techniques. Through the catheter, doctors place a mesh patch or plug to close the hole. The heart tissue grows around the mesh, permanently sealing the hole.
Is Holt-Oram syndrome congenital?
Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner.
What is ulnar mammary syndrome?
Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands).
What causes seal syndrome?
Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance.
|Cases of severe thalidomide-induced phocomelia.|
Is phocomelia a disease?
Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk.
Why did thalidomide cause phocomelia?
Phocomelia remains the most striking limb deformity caused by thalidomide, and remains the stereotypical image of thalidomide embryopathy. Phocomelia occurs through a severe shortening of the limb/s, due to proximal elements (long bones) being reduced or missing and leaving distal elements (handplate) in place.
Is brachydactyly a birth defect?
Brachydactyly is a congenital condition that a person is born with. It leads to someone’s fingers and toes being much shorter than average compared to the general size of their body. There are multiple types of brachydactyly that affect the fingers and toes differently.
How do I get rid of brachydactyly?
In extreme and very rare cases, surgery may be used to treat brachydactyly. Plastic surgery may be used for cosmetic purposes, or in rare cases, to improve functionality. Many who need surgery will have brachydactyly along with another condition. Surgery may include an osteomy, which cuts the bone.
How is brachydactyly treated?
There is no general, specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function.
What is Kabuki syndrome?
Kabuki syndrome is a rare genetic disorder with a range of characteristics, including intellectual disability, distinctive facial features and skeletal abnormalities. There is no cure – treatment aims to reduce the risk of complications and improve quality of life.
What is the life expectancy of someone with Rubinstein-Taybi syndrome?
The disorder is fatal in children. Life expectancy does not surpass five years of age. The disorder’s cause is genetic.
Can people with Rubinstein-Taybi syndrome have children?
Is Rubinstein-Taybi diagnosed before birth?
The Rubinstein-Taybi syndrome is not at present detectable before birth and is evenly found in both males and females. The syndrome was thought to be rare but an increase in the number of reported cases each year suggests it is not as rare as estimated.
Can you live a normal life with a hole in your heart?
It is very possible to live with a hole in your heart, without ever realising that it’s there. A patent foramen ovale, also known as a PFO, is a hole between the left and right atria (upper chambers) of the heart that we all have when we are in the womb, but this should close shortly after we’re born.
What does a person with Williams syndrome look like?
Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.
Can you live a normal life with Williams syndrome?
Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life expectancy due to complications of the disease (such as cardiovascular problems).