In-depth insights into various childhood syndromes and disorders.
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LEOPARD syndrome is a rare genetic condition. The main symptoms of the syndrome affect the skin, heart, inner ear and genitalia. It belongs to a group of diseases known as RASopathies. The body’s RAS pathway is responsible for its growth and development. RASopathies, like LEOPARD syndrome, are caused by gene changes that affect and impair these pathways in some way.
It is a recently identified genetic syndrome. Often also called hypomyelinating leukodystrophy type 10 with microcephaly this rare disorder has been identified mainly in families where the parents are related by blood. So far this has involved 11 families worldwide.
This genetic syndrome is extremely rare with just a few cases reported worldwide, to date. It presents with a wide range of symptoms including a small head, severe growth and developmental delay and characteristic facial features. Immunodeficiency is also a characteristic feature of the condition. Syndrome Synonyms: LIG4 syndrome
Also known as Berardinelli-Seip syndrome this rare genetic condition leads to the loss of almost all of the body fat of an affected individual. Coupled with this is an increased muscularity. Metabolic issues, and issues breaking down glucose can lead to complications with the syndrome. There are four different types of the condition, each with their own specific gene mutation. Around 500 cases of the syndrome have been identified worldwide.
Also known as Classic Lissencephaly this rare disease is a brain malformation syndrome that may by itself be considered as standalone syndrome, or it may also be one of the symptoms of other syndromes such as Miller-Dieker. This brain malformation is known as agyria or pachygyria (absent or incomplete development) of the brain- specifically concerning the ridge on the cerebral cortex of the brain. This means instead of presenting with folds and ridges, the brain appears smooth. This syndrome is also known as: Double cortex syndrome Lissencephaly Sequence, Isolated; Ils Lissencephaly, Classic Subcortical laminar heterotopia X-linked isolated lissencephaly XSCLH/LIS
Loeys-Dietz is a genetic condition that affects connective tissue in the body. Identified in 2005, research is still ongoing into the different gene mutations that trigger the syndrome. The disease presents with a wide variety of symptoms, some of them severe in nature. Often the symptoms of this rare disease mirror those of Marfan syndrome and Ehlers Danlos (the vascular type). It is characterized by symptoms that affect the cardiovascular, muscoskeletal and gastrointestinal systems of the body.
Also known as Mecp2 Duplication syndrome this rare genetic condition is a progressive disorder, meaning symptoms associated with the disease worsen over time. The syndrome primarily affects males. Affected individuals often have a short life expectancy, with over 50% dying before the age of 25 years old. The main symptoms of the syndrome are neurological and developmental. This syndrome is also known as: Mecp2 Duplication Syndrome Mental Retardation, X-linked, Syndromic, Lubs Type Mental Retardation, X-linked, With Recurrent Respiratory Infections
Lujan syndrome is a rare genetic disease which occurs mainly in males. Its defining facial features are similar to those of Marfan syndrome, including a tall and thin stature. The other main symptoms of the syndrome include intellectual disability and behavioral issues. Syndrome Synonyms: Lujan-Fryns syndrome Mental Retardation, X-linked, With Marfanoid Habitus X-linked mental retardation – marfanoid habitus
Macs syndrome is a group of conditions that affect the development of the eyes, before birth. The name stands for Microphthalmia, Anophthalmia and Coloboma. These conditions are rare and occur in several thousand children born worldwide every year. Syndrome Synonyms: Macrocephaly – alopecia – cutis laxa – scoliosis Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis MACS syndrome RIN2 syndrome Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis