In-depth insights into various childhood syndromes and disorders.
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22q11.2 Deletion syndrome, or as it is sometimes referred to, DiGeorge syndrome, is a genetic disorder. It is often referred to by several different names and presents with a wide range of symptoms that can affect almost any part of the body. The characteristics and symptoms of the syndrome vary greatly between individuals and even […]
3-Methylglutaconic Aciduria is a very rare genetic metabolic disorder. There are currently less than 20 cases recorded worldwide, to date. Generally, symptoms of this rare disease may be present in childhood, but for others, symptoms may not appear until early adulthood. This can make it difficult to diagnose, based on its symptoms alone. Developmental delay […]
3MC syndrome is a rare genetic syndrome, the exact prevalence of which is unknown. The syndrome as named combines four previously separately identified and named disorders, Mingarelli, Malpuech, Michels, and Carnevale, which are now known collectively as 3MC. The main symptoms of the syndrome include developmental delay, and unique facial features, including features affecting the […]
49,XXXXY syndrome is a rare chromosomal condition that affects only males. It is sometimes referred to as a variant of Klinefelter syndrome, but it affects individuals much more severely and varies in many ways in terms of the possible symptoms. The main features of this syndrome include intellectual disability, infertility, birth defects, and unique facial […]
Aarskog-Scott syndrome is a rare genetic disorder that occurs mainly in males due to the way in which it is inherited. It is often first identified from the age of 3 years old, when restricted growth prompts a diagnosis. The defining features of this rare disease include a short stature, unique facial features, as well […]
Ablepharon-Macrostomia syndrome is a rare genetic condition. Symptoms of the syndrome largely affect the head and face but can also affect the skin, fingers, and genitals. The unique facial features of the syndrome are one of its main identifying symptoms. This syndrome is also known as:Ams McCarthy syndrome The syndrome is caused by mutations in […]
Achondroplasia is characterized by short-limb dwarfism. The syndrome makes it difficult for the body to convert cartilage into bone, which leads to restricted bone growth. It is the most common cause of dwarfism. Affected individuals usually have short limbs, but a normal-sized torso. It is a congenital syndrome that is usually identified at birth. The […]
The acrocallosal syndrome is a rare genetic condition that was first identified in 1970 by Dr. Schnizel. Since then there have been just 25 cases diagnosed worldwide to date. It is a syndrome that affects the development of the brain, and intellectual disability is a defining feature of it. The syndrome is an inherited condition […]
Acrodysostosis is a group of genetic conditions that affect bone growth. The main symptoms include very short fingers and toes, underdeveloped facial bones, as well as a small nose, and short stature. There are two types of the condition and they each have different gene change causes. The other difference is that Type 1 also […]