Genetic disorders database

You can see all the disorders listed in our database below. If you would like to add a new entry, please click the button below. If you would like to edit existing listing, you can do so by clicking on one of the disorders below.

I would like to add a new database entry
  • Klippel-Feil syndrome Klippel-Feil syndrome

    Klippel-Feil syndrome is a rare disorder characterised by failure of the bones (vertebrae) in the neck (cervical) region of the spine to divide as they should during fetal development. This results in fusion of any 2 of the 7 neck (cervical) vertebrae. Fusion is usually present at birth (congenital). The most common signs of the condition are a short neck, low hairline at the back of the head, and limited movement of the upper spine.

  • LHON LHON

    Associated with several Mitochondrial Genes (MtDNA). Causes severe loss of central vision, sometimes with more widespread Multiple Sclerosis-like symptoms (LHON Plus). Can occur at any age, and can affect females as well as males.

  • Limb Girdle muscular dystrophy type 2a Limb Girdle muscular dystrophy type 2a

    A genetic condition affecting the muscles in legs and arms.

  • Loeys-Dietz Syndrome Loeys-Dietz Syndrome

    Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. The disorder is marked by aneurysms in the aorta, often in children. The aorta may also undergo sudden dissection in the weakened layers of the wall of aorta.

  • Lynch Syndrome Lynch Syndrome

    Lynch Syndrome (HNPCC) is an autosomal dominant genetic condition that predisposes those affected to a number of cancers - particularly colorectal & endometrial cancers - which are often aggressive & occur at a young age.

  • Marfan Syndrome Marfan Syndrome

    Marfan syndrome is an inherited disorder of the body’s connective tissue that affects men and women of any race or ethnic group. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Individuals with Marfan syndrome are usually tall and slender, and have elongated fingers and toes.

  • McCune-Albright syndrome McCune-Albright syndrome

    McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

  • Medium-chain Acyl CoA Dehydrogenase Disorder Medium-chain Acyl CoA Dehydrogenase Disorder

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic condition where a person has problems breaking down fatty acids for energy

  • Mitochondrial Encepholopmapthy Lactic Acidosis Stroke like episodes Mitochondrial Encepholopmapthy Lactic Acidosis Stroke like episodes

    Genetic disorder which affects my blood, mobility, brain and energy levels.

  • Neuhauser syndrome Neuhauser syndrome

    A very rare genetic disorder, characterised by eye abnormalities, reduced muscle tone and delayed physical and mental development but type and severity of symptoms varies in the very few reported cases. The causative gene is unknown.

  • Neurofibromatosis1 - Noonan Syndrome Neurofibromatosis1 - Noonan Syndrome

    Mutation of the NF gene causing tumors to grow along the nervous system

  • PFEIFFER'S SYNDROME PFEIFFER'S SYNDROME

    Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

  • Pitt Hopkins Syndrome Pitt Hopkins Syndrome

    PTHS is an ultra rare neuro-developmental disorder. It is characterized by severe learning difficulties and developmental delay (episodic hyperventilation and/or breath-holding while awake) epilepsy, GI issues and distinctive facial features.

  • Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia

    Primary Ciliary Dyskinesia (PCD) is an inherited, relatively rare condition associated with the abnormality of cilia (microscopic hairs that beat in the airways, sweeping secretions out of the respiratory tract). PCD may affect the lungs, nose, sinuses, ears and fertility.

  • PXE PXE

    Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes select elastic tissue in the body to become mineralized, that is, calcium and other minerals are deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

  • Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata

    RCDP is a form of dwarfism, with it comes learning difficulties, cataracts in both eyes, shortened long bones, flattened nose, low-set ears. There is also possible scoliosis. General growth is limited. The most marked sign is stippling on the end of the long bones - seen only under x-ray.

  • Sickle Cell Anaemia Sickle Cell Anaemia

    Sickle cell anaemia is a genetic disorder that affects the haemoglobin. The Haemoglobin in the marrow produces the red blood cells. In patients with Sickle cell disorder, the red blood cells are sickle in shape and not round, this is because they lack oxygen and grow abnormally.

  • Smith Lemli Opitz Syndrome Smith Lemli Opitz Syndrome

    Slos is an inborn error of cholesterol synthesis, it is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7 dehydrocholesterol reductase or DHCR7. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.

  • Stickler Syndrome Stickler Syndrome

    Connective tissue disorder affecting formation of collagen. Characterized by distinctive facial abnormalities (Pierre Robin Sequence (Small lower jaw and wide cleft palate), cleft palate, high arched palate), eye problems (short sightedness, cataracts, retinal detachment), hearing loss, and joint problems. Individuals with Stickler syndrome experience a range of signs and symptoms, some people have no signs and symptoms.

  • Tay-Sachs Tay-Sachs

    Tay-Sachs is a genetic disorder caused by a defect in the HEXA gene which produces the beta-hexosaminidase A enzyme. The enzyme is important as it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells. Physically, an individual diagnosed with Tay-Sachs will suffer a relentless deterioration of mental and physical abilities.

Please let us know more about you

In order to allow you to upload a new listing, please fill in the fields below and click submit to proceed to to the upload page.

used only if we have questions about your entry.

Share this page