*  Microcephalic primordial dwarfism NGS panel | Connective Tissue Gene Tests
Microcephalic primordial dwarfism consists of a group disorders including Meier-Gorlin syndrome, microcephalic osteodysplastic primordial dwarfism and Seckel syndrome. The main findings include intrauterine and postnatal growth retardation, severe short stature, and microcephaly. Microcephalic primordial dwarfism is caused by mutations in the genes involved in cell cycle and DNA repair.. The microcephalic primordial dwarfism NGS panel consists of twenty-one genes: ATR, ATRIP, CDC45, CDC6, CDT1 CENPJ, CEP63, CEP152, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP and XRCC4.. Copy number variation (CNV) analysis of the microcephalic primordial dwarfism genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. All of the genes are also offered as individual sequencing tests and deletion/duplication tests. ...
*  microcephalic osteodysplastic primordial dwarfism type II Disease Ontology Browser - DOID:0060609
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II
*  Microcephalic primordial dwarfism Toriello type | Genetic and Rare Diseases Information Center (GARD) - an NCATS...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Microcephalic primordial dwarfism Toriello type
*  Primordial dwarfism | Article about Primordial dwarfism by The Free Dictionary
Looking for Primordial dwarfism? Find out information about Primordial dwarfism. condition in which an animal or plant is less than normal in size and lacks the capacity for normal growth. Dwarfism is deliberately produced and... Explanation of Primordial dwarfism
*  Dwarfism - Mayo Clinic
Most people with dwarfism prefer not to be labeled by a condition. However, some people may refer to themselves as dwarfs or little people. The word "midget" is generally considered an offensive term.. People of average height may have misconceptions about people with dwarfism. And the portrayal of people with dwarfism in modern movies often includes stereotypes. Misconceptions can impact a person's self-esteem and limit opportunities for success in school or employment.. Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates. Because dwarfism is relatively uncommon, children may feel isolated from their peers.. How you learn whether your child has dwarfism will depend on the degree to which it affects his or her development. Disproportionate dwarfism is usually apparent at birth or early in infancy. Proportionate dwarfism may not be ...
*  Walking With Giants Foundation - MOPD II
What does the name mean?. To clarify how the condition was named, we will breakdown the name of the condition into smaller components. Majewski. The name of the doctor (Dr Frank Majewski) who first identified the condition while doing research on Seckel Syndrome.. Dr Majewski studied medicine in Saarbrücken, Freiburg, Vienna and Münster. He qualified in 1967 and then worked in the Institute of Human Genetics in Münster and specialised in paediatrics at the University of Tübingen Children's Hospital.. In 1978 he was appointed professor of human genetics and paediatrics at the Heinrich-Heine University of Düsseldorf, where he is presently (2001) professor at the Institut für Humangenetik und Anthropologie.. He defined Majewski Osteodysplastic Primordial Dwarfism type II (MOPD II) within a series of articles on Seckel syndrome and other specific syndromes of primordial dwarfism [Majewski and Goecke, 1982; Majewski et al., 1982a and 1982b].. They (Majewski and Goecke), ...
*  Seckel syndrome - Wikipedia
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures[citation needed], receding mandible and intellectual disability. A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice suffer high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated aging. These findings are consistent with the DNA damage theory of aging. Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) ...
*  Achondroplastic Dwarfism
Achodroplastic dwarfism is a bone growth disorder that affects 1 in 15,000 to 40,000 births. This eMedTV article explores the causes and symptoms of achondroplastic dwarfism and lists the health conditions associated with this disorder.
*  Man With Dwarfism Wears Hidden Camera to Show a Day From His Point of View
New York is a big city, and the sheer size of it can be overwhelming for anyone. Now imagine what it feels like if you are a little person.Jonathan Novick, 22, has achondroplasia, the most common form of dwarfism. Sharing a definition of dwarfism, Novick says it is 'the abnormal underdevelopment
*  2million dwarfism study launched
Earlier research by the various groups had identified the genetic mutations that cause some of the conditions associated with dwarfism. The collaborators now intend to use this unprecedented experimental resource in the form of 10 genetic disease models to take their work to the next stage of development.. "There are more than 200 unique and well-characterised types of bone disorder, ranging in severity from relatively mild to severe and lethal forms," said Dr Briggs, who is based in Manchester's Faculty of Life Sciences.. "Although individually rare, as a group of diseases they have a combined incidence of more than one in 4,000.. "This is an exciting project that brings together an international group of experts to hopefully rapidly advance our knowledge of the genetic causes of dwarfism.. "By the end of this research we hope to have identified the major molecular problems that cause these disorders and to be much closer to identifying potential therapeutic targets.". ...
*  Boy with dwarfism becomes best friends with dog with dwarfism - AOL News
Dogs are pretty awesome at keeping people company, but for one boy with dwarfism his dog means even more than that - it's helped with self-acceptance.
*  Is Dwarfism A Disability? | Painting On Scars
(Image by Ron Riccio used under Creative Commons license via) A more sober ending to Dwarfism Awareness Month... I remember being around 10 years-old when I began taking care to never refer to my dwarfism as an
*  About Hello Little Lady - Hello, Little Lady
Ah, I'm pleased you've stumbled up on this blog, Hello Little Lady. Perhaps you're a person with one of 200 forms of dwarfism in the world. A parent of a child with dwarfism curious and apprehensive about what the world holds for them. Or maybe you're an academic interested in studying people with disabilities? A production researcher looking for contributors for your documentary about people living with dwarfism. Whoever you are, you are warmly welcomed to my blog.. Hello Little Lady aims to be a platform to celebrate and give a voice to those of us in the dwarf community. I first started writing and sharing my experiences of living with dwarfism back in around 2008 after taking a short creative writing course. I took the moniker Hello Little Lady after a young child shouted over to me, which I thought would be a great name for a blog and set about writing in secret. Firstly, because, well, and I think it was reflective of the time, I ...
*  Walking With Giants Foundation - WWGF Family Support
When you're first given the news that your child has been pre-diagnosed or diagnosed with Primordial Dwarfism along with the different life threatening medical issues they may face, your emotions can be very mixed and extreme. Parents encounter the feelings of isolation, anxiety, sadness, despair, guilt and anger mixed up with an overwhelming love and protectiveness.. This is common situation with many parents when their child is born or later diagnosed with a disability or find themselves in a position when one of their children, another family member or even themselves are diagnosed with a life threatening condition.. Due to the rarity of Primordial Dwarfism and it's sub-types, parents feel frustrated due to the lack of information at the time of the initial pre-diagnosis or formal diagnosis, more so as they are referred from one specialist to another, desperately seeking to understand what is going one with their child.. One thing that we want to try to ensure and explain ...
*  Walking With Giants Foundation - WWGF Family Support Profiles
Within this page you will find information on some of the families and their children who are supported by the WWGF. It includes their personal experiences and some general feedback about the support given to them by the WWGF.. By providing this information it allows new families whose child has just been diagnosed as having a form of Primordial Dwarfism a first hand understanding of what it's like living with Primordial Dwarfism. From the earliest days and through the years ahead. It also shows them that they are not alone and there is a network of families out there to help and befriend them.. Additionally it allows our supporters and the general public to understand how crucial an organisation like the WWGF is and what the support means to the families.. Permission has been granted from the parents and individuals to use the information and pictures within this area of the WWGF website.. ...
*  Medical Wonder: Kenadie Jourdin-Bromley Has Primordial Dwarfism - ABC News
Kenadie Jourdin-Bromley is a medical wonder, a tiny girl living in a big world. She stands 33 inches tall and weighs just 17 pounds -- roughly the size of a 3-year-old. But Kenadie is 7 years old.
*  DMOZ - Health: Conditions and Diseases: Musculoskeletal Disorders: Congenital Anomalies: Dwarfism: Diastrophic Dysplasia
Diastrophic dysplasia (DTD) is a chondrodysplasia causing severe growth retardation, and structural and functional abnormalities of joints. Growth retardation and joint abnormalities are already present in utero, and mean height at birth is 32.5 cm. Extremities are short while the trunk is of normal size, upper arms show ulnar deviation with stiff fingers and a hitchhiker thumb. Hips are stiff and most patients have club foot. A cleft palate is frequent. Growth remains slow, the median adult height for males is 135 cm and 129 cm for females. Changes in the joints often progress with age and corrective surgery becomes necessary.
*  Comedian Ricky Gervais defends dwarfism sitcom - Disability Movies
From AAS via Media Dis n Dat:. Ricky Gervais has defended his new sitcom centred around Warwick Davis, insisting he doesn't rely on the dwarf actor's short stature for the show's jokes.. Gervais and his writing partner Stephen Merchant recruited the Harry Potter star, who was born with dwarfism, for upcoming TV comedy Life's Too Short, about a dwarf actor running a struggling showbiz agency.. But The Office funnyman told Britain's Absolute Radio Breakfast Show he doesn't poke fun at Davis' disability in the series.. "This is nothing to do with his height. We're not getting jokes out of him being short all the time, we're getting jokes out of him being militant or ripping off other dwarves. He runs an agency, both in real life and in this one. In this one it's called Dwarves for Hire and of course he's just ripping them off. He's getting all the best jobs for himself and he treats them like commodities and props.. "It's not the real Warwick Davis, he's not ...
*  What is Dwarfism? | Big Enough | POV | PBS
Learn more about dwarfism, the medical conditions that cause short stature, and how to avoid upsetting a dwarf - don't call him a
*  Dwarfism
A dwarf is a short-statured person whose adult height is 4 feet 10 inches or under. Find out what happens when a person has dwarfism and why some people are born with it.
*  Dwarfism study - Press Office - Newcastle University
A drug used to treat conditions such as epilepsy has been shown in lab tests to significantly improve bone growth impaired by a form of dwarfism.
*  New Pup Helps 5-year-old Boy with Dwarfism Stand Tall to Bullies - Good News Network
A puppy with the same form of dwarfism as a 5-year-old boy has given him new confidence to accept his condition and stand up to bullies.
*  Couples Children Both Diagnosed with Fatal Dwarfism
Jessica and Kyle join The Doctors to share their heartbreaking journey dealing with the diagnosis of their two children with a fatal form of dwarfism.
*  Couples Children Both Diagnosed with Fatal Dwarfism
Jessica and Kyle join The Doctors to share their heartbreaking journey dealing with the diagnosis of their two children with a fatal form of dwarfism.
*  Virginia boy with rare form of dwarfism impacts world - WAFF-TV: News, Weather and Sports for Huntsville, AL
Jacob Walker is four years old and stands just 28 inches tall. He's the only known boy in the world living with a rare form of dwarfism. He might seem tiny, but he's making a huge impact.