In-depth insights into various childhood syndromes and disorders.
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Hemifacial Atrophy, Progressive is a rare craniofacial disease is a degenerative and progressive syndrome that affects the symmetry of the face and which then in turn causes related facial features and characteristics. This rare disease is progressive, meaning its symptoms and features of the syndrome worsen over time. This syndrome is also known as:Hemifacial atrophy; […]
Hemifacial (one side of the face) Microsomia is a rare disease, the defining feature of which is the underdevelopment of one-half of the face. This underdevelopment may be mild or severe. It is known to vary from individual to individual. However, in every individual diagnosed, an undeveloped lower jaw is a consistent feature. This syndrome […]
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 is a rare disease that affects the lymphatic system. The lymphatic system also involves the circulatory and immune systems. It is what transports immune and lymph cells around the body. Symptoms and life expectancy with the syndrome can vary widely between patients, including those within the same family. Some patients survive […]
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; […]