In-depth insights into various childhood syndromes and disorders.
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Holoprosencephaly is a rare brain abnormality in which the brain fails to divide into the right and left hemispheres, as it should. There are four types of the syndrome, identified by the severity of the abnormality. The more severe the brain abnormality, generally the more severe the unique facial features and symptoms will be. Some […]
This rare disease is a genetic syndrome that occurs in 1 in every 100,000 live births. Symptoms of the syndrome may vary widely, even amongst family members with the same diagnosis. But common features include abnormalities in the upper limb bones, congenital heart defects (over 75% of patients diagnosed with this syndrome will also be […]
Hutchinson-Gilford Progeria syndrome is a rare fatal genetic condition named after the doctors who first identified it, in 1886 and 1897 respectively. The syndrome triggers accelerated aging in those affected. Heart disease is also a serious and common complication of the rare disease. Syndrome Synonyms:HGPS Hutchinson-Gilford syndrome; Progeria; Progeria Syndrome, Childhood-onset, with Osteolysis; PSCOO Mutations […]
Hyper-IgE Recurrent Infection, formerly called Job syndrome, is a rare disorder that primarily impacts the immune system, leading to frequent infections. While the disease can affect multiple systems and parts of the body, it commonly causes inflammation and pneumonia. These recurring infections can further compromise other bodily systems, resulting in additional health complications. To date […]
Hyperphosphatasia with Impaired Intellectual Development syndrome is characterized by increased levels of the enzyme alkaline phosphatase in the blood. Known as hyperphosphatase, it causes no known health issues but is often the first indication an individual has the syndrome. The syndrome is characterized by intellectual disability, delayed psychomotor development, absent or very limited speech, and […]
Hypoparathyroidism-Retardation-Dysmorphism syndrome, also called Sanjad-Sakati syndrome, is a rare genetic condition primarily observed in children born to parents of Arab descent, often with a close familial relationship, contributing to its rarity. This syndrome is also known as:HRD Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures; Hypoparathyroidism, Congenital, Associated with Dysmorphism; Growth Retardation, and Developmental Delay; […]
Congenital Hypothyroidism refers to hypothyroidism that is present at birth. This means that the thyroid gland does not function in part, or at all. The thyroid gland generates the hormones that contain iodine and which help to regulate growth and brain development, as well as the metabolism of the body. Congenital hypothyroidism affects the levels […]
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 is a rare neurodevelopmental disorder that is usually identified at birth or during infancy. The syndrome does not affect the development of the structure of the brain but individuals present with extreme global developmental delay, limited or no speech, and limited or no ability to walk […]
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 is a rare neurodevelopmental delay disorder that presents either at birth or during infancy. The main symptoms of the syndrome include delayed development, limited speech development, and usually an inability to walk unaided. This syndrome is also known as:IHPRF3 Changes in the TBCK gene are responsible […]