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What is KBg syndrome?

What is KBg syndrome?

KBG syndrome is a rare genetic disorder characterized by short stature, dental abnormalities, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. Abnormalities of the head and face (craniofacial dysmorphism) may also be present.

What is russell silver syndrome?

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.

What is wolfram syndrome?

Summary. Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss.

Is macrodontia genetic?

Macrodontia is a dental condition where a tooth or group of teeth are abnormally larger than average. Functional and aesthetic discrepancies may arise in affected individuals resulting in lowering the quality of life. It has been noted that macrodontia is associated with several genetic and endocrine abnormalities.

Who discovered KBG syndrome?

In 1975 Doctors Herrmann, Pallister, Tiddy and Opitz began researching the phenotype that would lead to KBG Syndrome. They found 3 families that presented with similar characteristics including “short stature, characteristic facies, mental retardation, macrodontia and skeletalanomalies”.

Can newborns be born with diabetes?

Very rarely, babies are born with diabetes. This is called neonatal diabetes and is caused by a problem with the genes. Neonatal diabetes can disappear by the time the child is 12 months old, but the diabetes usually returns later in life. In Australia, about 26 in every 100,000 children under 5 have type 1 diabetes.

Is LADA type 1 or Type 2?

Latent autoimmune diabetes in adults (LADA) is a type of diabetes that is often misdiagnosed as type 2 diabetes. Also referred to as “type 1.5”, it’s actually a form of type 1 diabetes that develops very gradually.

What does macrodontia look like?

The condition is identified in childhood and other symptoms include enlarged feet and hands, enlarged facial features or headaches. Relative generalized macrodontia. This form usually happens when a patient has an undersized jaw but normal or slightly enlarged teeth.

Can braces fix macrodontia?

Orthodontics can go a long way to help you straighten your teeth. The procedure can also be used to expand the defective jaw where and when necessary using palate expander. The end result will be a stretched jaw that can allow teeth to fit better. Braces and retainers can be used to straighten crooked teeth.

How can you tell if a baby is diabetic?

The signs and symptoms of type 1 diabetes in children usually develop quickly, and may include:

  1. Increased thirst.
  2. Frequent urination, possibly bed-wetting in a toilet-trained child.
  3. Extreme hunger.
  4. Unintentional weight loss.
  5. Fatigue.
  6. Irritability or behavior changes.
  7. Fruity-smelling breath.

Are diabetic babies bigger?

The infant of a diabetic mother is often larger than expected for the gestational age. The infant of a diabetic mother may have higher risks for serious problems during pregnancy and at birth. Problems during pregnancy may include increased risk for birth defects and stillbirth.