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.
Dyastrophic Dysplasia is a rare genetic condition that affects the development of bone and cartilage. It leads to joint pain and abnormalities in affected individuals. The syndrome affects mainly those of Caucasian descent and occurs in 1 in 500,000 live births in the US. Syndrome Synonyms:DD Mutations in the SLC26A2 gene are responsible for the […]
Distal 18q Deletion syndrome is a rare genetic condition that affects multiple parts of the body including the face, nervous system, and the heart and kidneys. The syndrome occurs in 1 in 55,000 live births in the US. The syndrome is caused by the deletion of a piece of the long (q) arm of chromosome […]
Donnai-Barrow syndrome is a rare genetic condition that affects multiple parts and systems of the body including the brain, ears, face, eyes, and internal organs. It is believed to affect less than 50 individuals globally. Syndrome Synonyms:DBS/FOAR Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria; Faciooculoacousticorenal Syndrome FOAR Mutations to […]
Down syndrome is one of the most common genetic conditions, and approximately 1 in every 700 babies born in the US is born with this syndrome. Maternal age is believed to be a significant risk factor for developing oocytes with extra chromosome 21; although more Down syndrome babies are born to younger mothers, that is […]
Dubowitz syndrome is a very rare genetic condition, with less than 200 cases diagnosed worldwide to date. Currently, the research has not revealed one common genetic cause of the condition, and there are some researchers and medical professionals who continue to argue that it is not a condition simply a collection of symptoms. The main […]
DYRK1A Mutation is a rare genetic condition with symptoms that affect multiple parts of the body. Severe intellectual disability is a defining symptom of the syndrome. It also presents with unique facial features. This syndrome is also known as:Intellectual disability, DYRK1A mutation; Intellectual disability, DYRK1A mutations; MRD7 Mutations in the DYRK1A gene are responsible for […]
Ectodermal Dysplasia is a diverse group of genetic disorders, thought to number over 180 types. These congenital disorders are characterized by abnormalities in two or more ectodermal structures such as the hair, nails, teeth, or sweat glands; but without any other systemic findings. Syndrome Synonyms:Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine Syndrome; CST Syndrome ;Ectodermal Dysplasia 1, Hypohidrotic/hair/tooth […]
Ehlers-Danlos syndrome, Musculocontractural Type 1, also known as adducted thumb clubfoot syndrome, a rare disease is an inherited, connective tissue disorder. It affects multiple parts of the body, including the face, internal organs, and developmental delay of an individual. Syndrome Synonyms:Adducted thumb, clubfoot syndrome; Adducted Thumb-clubfoot Syndrome; ATCS Adducted Thumb, Clubfoot, and Progressive Joint and […]
Ehlers-Danlos syndrome is a rare inherited connective tissue disorder, widely considered to be the most severe form of Ehlers-Danos. It affects various parts of the body, particularly the vascular system. Syndrome Synonyms:EDS IV; EDS4 Ehlers-Danlos syndrome-vascular type; Ehlers-Danlos Syndrome Arterial Type; Ehlers-Danlos Syndrome Ecchymotic Type; Ehlers-Danlos Syndrome Sack-Barabas Type; Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant; […]