In-depth insights into various childhood syndromes and disorders.
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This rare disease is an extremely rare genetic condition that has, to date, been diagnosed in just 6 multigenerational families worldwide. The main features and symptoms of the syndrome affect the ears and jaw. It is an inherited condition. This syndrome is also known as: Constricted ears – malformed condyle of mandible Cosman ear; Question Mark Ears Syndrome
This rare disease is genetic condition that presents with very specific symptoms. It main features also include what are often referred to as Down syndrome-like facial features. The syndrome also presents with symptoms that affect multiple parts of the body including the eyes, ears, and skull. This syndrome is also known as: Cataracts; Congenital; With Sensorineural Deafness; Down Syndrome-like Facial Appearance; Short Stature; And Mental Retardation
This rare disease is a genetic developmental disorder first identified in 2013. It is a rare condition and in 2018 there were just 200 diagnosed cases worldwide The syndrome presents with intellectual disability and developmental delay, affecting almost all areas of development in an affected individual.
Baraitser-Winter is a genetic condition characterized by a number of unique facial features and other heart conditions. It was first identified in 1988. It is a multiple congenital anomaly syndrome, meaning it is present at birth and affects multiple parts of the body. The syndrome affects the development of the grey matter of the brain, and intellectual disability is one of the features of the syndrome. This syndrome is also known as: Iris coloboma with ptosis hypertelorism, and mental retardation; Ramer syndrome
This rare disease is a congenital condition with fewer than 20 patients diagnosed worldwide, to date. It’s most common feature is excessive hair growth, especially on the back of affected individuals. The syndrome also presents with unique facial features, thin skin and deafness. This syndrome is also known as: Barber-Say syndrome Hypertrichosis; Atrophic Skin, Ectropion, And Macrostomia
Bardet-Biedl is a rare genetic disorder that occurs in approximately 1 in every 250,000 live births. Symptoms may vary considerably between individuals and affect multiple parts of the body. Characteristic features of this rare disease include obesity, intellectual disability, and issues concerning the eyes, kidneys and genitalia. While rare, the disorder has a higher incidence rate in Newfoundland, Canada and in the Middle East amongst Bedouin populations.
This genetic syndrome is a rare, metabolic condition. There are 150 cases currently diagnosed worldwide, to date. It affects mainly males, and most affected individuals have a reduced life expectancy as a result of the condition. One of the main and most severe symptoms of this rare disease is an enlarged and weakened heart. This syndrome is also known as: 3-methylglutaconic aciduria – type II 3-methylglutaconic Aciduria, Type Ii; Mgca2 Barth syndrome BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Endocardial Fibroelastosis Familial primary endocardial fibroelastosis Mga, Type Ii; Mga2 X-linked endocardial fibrosis X-linked variety of endocardial fibroelastosis
Sometimes referred to as Gorlin syndrome, Basal Cell Nevus is a genetic condition that puts affected individuals at a possible greater risk of cancer. Affected individuals are at higher risk of being diagnosed with basal cell carcinoma (the most common form of skin cancer) during puberty. Defining features of the syndrome include issues with the skin, endocrine and nervous systems, eyes and bones. This syndrome is also known as: Basal cell nevus syndrome BCNS; Gorlin Syndrome; Gorlin-goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies NBCCS Nevoid Basal Cell Carcinoma Syndrome; Nbccs
This rare disease is a genetic, psychomotor condition that affects the eyes and brain First identified in Brazil, it is named for the researchers in Israel who furthered the understanding of the condition. The main symptoms of the syndrome include intellectual disability, seizures, heart defects and issues with the eyes.