In-depth insights into various childhood syndromes and disorders.
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It 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 caucasain descent and occurs in 1 in 500,000 live births in the US. Syndrome Synonyms: Dd DTD
It 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.
It 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
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. Researchers are still not able to identify the exact reasons why the extra chromosome 21 develops, and there are possibly several factors at play. Maternal age is believed to be a significant risk factor, although more down syndrome babies are born to younger mothers, that is simply because the birth rate amongst younger mothers is higher. Health conditions associated with Down syndrome include hypotonia, heart and thyroid disease, physical growth delays, mild to moderate intellectual delays and disorders, and very characteristic facial features. Hypotonia (low muscle tone), flat facies, up slanted palpebral fissures, developmental delay, and single palm crease are some of the most frequent Down syndrome characteristics. Syndrome Synonyms: Down syndrome
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 features of the condition are a short stature and a susceptibility to specific cancers.
This rare disease is a genetic condition with symptoms that affects 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
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 Type, X-linked; Ectd1 Ectodermal Dysplasia 1; Ed1 Ectodermal Dysplasia, Anhidrotic, X-linked; Eda Ectodermal Dysplasia, Anhidrotic; Eda Ectodermal Dysplasia, Hypohidrotic, 1; Hed1 Ectodermal Dysplasia, Hypohidrotic; Hed Eda1 HED Hyperpigmentation of Eyelids Hypohidrotic ectodermal dysplasia – X-linked form Xlhed
Also known as adducted thumb clubfoot syndrome, this 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 Skin Laxity Syndrome Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis ATCS D4ST1 Dermatan sulfate-deficient adducted thumb-clubfoot syndrome Dundar Syndrome EDS – musculocontractural Edsmc Ehlers-danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly
This rare disease is an inherited connective tissue disorder, widely considered to be the most severe form of Ehlers-Danos. It affects various parts of the body and 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 Ehlers-danlos Syndrome, Vascular Type