In-depth insights into various childhood syndromes and disorders.
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It is a rare syndrome that presents with bone dysplasia and severe developmental delay. This syndrome is also known as: Semd, Genevieve Type SEMDG Mutations in the NANS gene are responsible for the syndrome. The syndrome is inherited in an autosomal recessive pattern.
Stickler is a hereditary, progressive group of syndromes. This means symptoms associated with, and triggered by this rare disease worsen over time. Symptoms may vary widely in their type and severity between individuals. However the most serious features of the syndrome can cause vision and hearing impairment, as well as problems with the joints. Individuals with the syndrome have abnormal amounts of collagen which mainly affects auditory, ocular, skeletal, and orofacial abnormalities. Often individuals with the syndrome have a flattened facial appearance. Syndrome Synonyms: AOM Arthro-ophthalmopathy Marshall-Stickler syndrome WZS
It is a rare neurological syndrome. One of its identifying characteristics is a very distinctive port wine stain on the forehead, scalp or around the eye of an affected individual. This stain must be accompanied by abnormal or affected blood vessels on the brain on the same side of the head as the stain. A port wine stain alone is not Sturge-Weber syndrome. The syndrome is often also referred to, in medical terms, as encephalotrigeminal angiomatosis.
This syndrome is also known as DNMT3A overgrowth syndrome. It is a recently discovered syndrome that causes overgrowth in affected individuals. There is still much that is not known about this rare condition. Intellectual disability and developmental delay are key symptoms of the syndrome.
It is a rare genetic syndrome that mainly affects the eyes and throat of affected individuals. Due to the way in which it is inherited it affects mainly males, and affects them more severely than females. Syndrome Synonyms: Bbb Syndrome Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype G Syndrome Gbbb Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypertelorism-hypospadias Syndrome Hypospadias-dysphagia Syndrome Oculo-genito-laryngeal syndrome Opitz Bbbg Syndrome Opitz Gbbb Syndrome, Autosomal Dominant Opitz Oculogenitolaryngeal Syndrome, Type Ii Opitz-frias Syndrome Opitz-g Syndrome, Type Ii; Ogs2 Telecanthus With Associated Abnormalities Telecanthus-hypospadias Syndrome
It is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor development delay and unique facial features. The syndrome occurs in less than 1 in 1 million live births. The syndrome was only discovered fairly recently and research is still ongoing.
It is a rare chromosomal syndrome that affects multiple parts of the body. The main symptoms of the syndrome are usually very obvious in infancy and included difficulties with feeding, delayed development and intellectual disability. However these can vary according to the individual. As a rare syndrome it is known to affect around 250 families worldwide. This syndrome is also known as: Isochromosome 18p Syndrome
It is a rare skeletal disorder that presents with very short limbs as well as folds of skin on the arms and legs. The syndrome is severe and most infants with the syndrome are stillborn or die very soon after birth from respiratory failure. Very few survive into childhood and those that do require considerable medical assistance.
It is a rare genetic syndrome that causes skeletal abnormalities primarily. Slow growth is also a defining characteristic of the syndrome and this slow growth continues throughout childhood and into adulthood. There are currently around 100 reported cases of the syndrome worldwide. A variant of the syndrome known asYakut short stature syndrome has been reported in the isolated Yakut population in Siberia, Russia. This variant of the syndrome also presents with breathing difficulties and issues that can be life threatening in infancy. This syndrome is also known as: 3m Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Le Merrer Syndrome Slender boned nanism