In-depth insights into various childhood syndromes and disorders.
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This rare disease is a genetic condition which affects the cerebellum (the part of the brain responsible for the control of fine voluntary movements) making it is a neurodevelopmental condition. The syndrome also presents with developmental delay and intellectual disability.
This rare disease is a very rare genetic syndrome. There are currently 80 cases recorded, to date. The syndrome mainly affects the development of the ribs and jaw of affected individuals. However it also presents with a wide range of symptoms that affect many different parts and systems of the body. This syndrome is also known as: CCMS Rib Gap Defects With Micrognathia Rib-gap syndrome
This rare disease is a congenital, degenerative genetic condition. It affects the brain, spinal cord and eyes of affected individuals. Individuals with the syndrome have a life expectancy of no more than 5 years. Syndrome Synonyms: Xeroderma Pigmentosum Vii; Xp7 Xp, Group G; Xpgc
This rare disease is a genetic condition that presents with 3 identifying features. These are distinct facial features, a heart condition (patent ductus arteriosus) and hand abnormalities. This syndrome is also known as: Char Char (1978) – Ptosis; ‘duck-Bill Lips’; Short Philtrum Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
CHARGE syndrome is a genetic disorder that usually presents with a variety of birth defects. The disorder is rare and not always easy to diagnose as symptoms may vary widely between individuals. Clinical criteria was established in 2005, the absence of a specific gene, responsible for the syndrome, for many years complicated the diagnosis. CHARGE syndrome is characterized by symptoms that affect the central nervous system, as well as the eyes, nose, and ears. Syndrome Synonyms: Charge Association–coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hall-hittner Syndrome; Hhs Pagon’s syndrome
This rare disease is a genetic condition currently diagnosed in 200 individuals worldwide, to date. Individuals with cherubism have very distinct facial features. The syndrome is believed to be two times more common in males than females. Syndrome Synonyms: Crbm
This rare disease is a genetic syndrome caused by the duplication of a gene located on a specific part of chromosome 16. It is a newly identified condition, first identified in 2010. Since then there have been just 26 cases of the syndrome diagnosed.
Chromosome 1p36 Deletion was identified in the 1990’s, although cases were recorded as early as the 1980’s. It is a rare chromosomal deletion syndrome. Severe intellectual disability is one of the main symptoms of the syndrome. Affected individuals also generally have limited to absent speech development and ability. Behavioral issues are also a common feature of this rare disease. Syndrome Synonyms: Monosomy 1p36 Syndrome
This rare disease is a genetic syndrome that occurs due to microdeletions on a specific chromosome. It affects the development of affected individuals, especially their motor skills development. Some individuals diagnosed with microdeletion show no symptoms of the syndrome at all, the reasons for this are still being researched. There are less than 50 reported cases of the syndrome worldwide, to date.