In-depth insights into various childhood syndromes and disorders.
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
Frontonasal Dysplasia is a rare genetic syndrome that affects the development of the head and face before birth. There are 3 identified types of the syndrome. Each type is caused by a mutation in a specific gene, and each syndrome has shared symptoms plus additional symptoms which make each form of the syndrome unique. This […]
Gapo syndrome is a rare congenital syndrome affecting the connective tissue in the body. Common symptoms of the syndrome include short stature (due to prenatal growth restriction), unique facial features, alopecia, and issues relating to the eyes and ears. First identified in 1947 there have been just 38 identified cases to date. This syndrome is […]
Glass, or SATB2-associated syndrome, is a genetic condition that presents with varying degrees of intellectual disability. It is a recently described syndrome, characterized by absent or limited speech, craniofacial abnormalities specifically affecting the palate and teeth, as well as behavioral issues. This syndrome is also known as:Chromosome 2q32-q33 Deletion Syndrome; Chromosome 2q33.1-Microdeletion; SATB2-associated syndrome Mutations […]
Gomez-Lopez-Hernandez syndrome is a rare genetic syndrome, the causes of which are still being researched. The main symptoms of the syndrome include alopecia (complete or partial), numbness of the face, sinuses and mouth (trigeminal anesthesia) and a brain abnormality (rhombencephalosynapsis). This syndrome is also known as:Cerebello-trigeminal-dermal Dysplasia; Cerebello-Trigeminal-Dermal syndrome; GLH Syndrome Gomez-Lopez-Hernandez Syndrome The exact […]
Greig Cephalopolysyndactyly syndrome is a rare genetic condition of which very few cases have been diagnosed and reported. The main symptoms of the syndrome affect the limbs, head, and face of an affected individual. Symptoms may vary widely between individuals. Also known as Polysyndactyly with Peculiar Skull Shape Changes in the GLI3 gene cause the […]
Hadju-Cheney syndrome is a rare congenital syndrome that presents with a variety of symptoms depending on the individual affected. The main symptoms of the syndrome affect the skull and bones of the fingers and toes. In some individuals, the neurological system may also be affected. There is still much to be known about this rare […]
Hallerman-Streiff syndrome is a rare genetic syndrome with a wide variety of symptoms. These symptoms include abnormalities to the skull and craniofacial regions, as well as ocular (eye) and dental abnormalities. The syndrome was first recorded in 1893, and there have been 150 reported cases of the syndrome, to date. This syndrome is also known […]
Also known as USP7-Related Disorder, this gene mutation disorder is a neurodevelopmental condition. Symptoms can vary according to the individual affected, not all symptoms are present in all individuals, and symptoms may vary according to their severity. The Hao-Fountain syndrome presents with both physical and behavioral features. This syndrome is also known as:Intellectual Developmental Disorder […]
Hartsfield syndrome is a rare genetic syndrome with two major, serious symptoms. The first is holoprosencephaly, which is when the brain does not develop properly. The second is ectrodactyly, which affects the hands and feet. There have been around 37 cases reported of this rare syndrome to date, and most of these cases have been […]