In-depth insights into various childhood syndromes and disorders.
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It is a rare genetic syndrome that belongs to a group of conditions known as skeletal dysplasia disorders. The symptoms of the syndrome mainly affect the bones, as well as the growth of an affected individual. This syndrome is also known as: Horan-Beighton syndrome OSCS
It is a rare genetic syndrome that presents mainly in males due to its mode of inheritance. There are two types of the syndrome, both of which present with similar symptoms- skeletal abnormalities, cleft palate, hearing loss. However Type 2 of the syndrome is a much more severe form and generally individuals with this form of the syndrome do not survive birth or the newborn period. Syndrome Synonyms: Opd I Syndrome Opd Syndrome 1 OPD1 Oto-palato-digital syndrome type I Taybi syndrome
It is a rare genetic syndrome which affects the skeletal system of the body. It also presents with hearing loss and unique facial features. There have been just a few cases of the syndrome diagnosed worldwide. The syndrome and its symptoms are very similar to those of Weissenbacher-Zweymüller syndrome and Stickler syndrome type III, and many researchers believe they are all types of the same syndrome. This syndrome is also known as: Chondrodystrophy With Sensorineural Deafness Nance-insley Syndrome Nance-sweeney Chondrodysplasia OSMED Oto-spondylo-megaepiphyseal dysplasia
It is a rare genetic syndrome that may affect multiple parts of the body, but especially the fingers and toes. It is a very rare condition, so much so that its prevalence is unknown. This syndrome is also known as: Ano – cerebro – digital syndrome Ano-cerebro-digital syndrome Anocerebrodigitalsyndrome Cerebro-Acro-Visceral Early lethality (CAVE) multiplex syndrome CerebroAcroVisceralEarlylethalityCAVEmultiplexsyndrome Epilepsy – gelastic Hypothalamic hamartoblastoma syndrome Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic-hamartoblastoma syndrome Hypothalamichamartoblastomasyndrome
Pallister-Killian syndrome is a very rare genetic condition with just 150 recorded cases to date. Although this figure may actually be higher as individuals with mild symptoms may go undiagnosed. This rare disease is a multi-system disorder. Its defining features include low muscle tone (hypotonia) in infancy and early childhood, intellectual disability, unique facial features and other features which are usually present at birth. Syndrome Synonyms: Isochromosome 12p Syndrome Pallister-Killian syndrome Tetrasomy 12p syndrome Tetrasomy 12p, Mosaic
It is a rare neurological and genetic syndrome. The main features of the syndrome are intellectual disability (usually mild to moderate) and a condition known as dystonia of the hands. Because of how the syndrome is inherited it occurs much more frequently in males than females. This syndrome is also known as: Isochromosome 12p Syndrome Pallister-Killian syndrome Tetrasomy 12p syndrome Tetrasomy 12p, Mosaic
It is a rare genetic syndrome, also referred to as a neurodegenerative disorder. It has mainly been identified in families in Finland, with a few cases reported in a few other European countries. Life expectancy for individuals with the condition is less than 15 years. This syndrome is also known as: Infantile cerebello-optic atrophy Infantile Cerebellooptic Atrophy PEHO syndrome Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
Also referred to as the Zellweger syndrome spectrum, this group of rare disorders have similar symptoms and all affect multiple parts of the body. The spectrum includes three syndromes which differ in the severity of their symptoms. Life expectancy with the most severe form of the condition is limited and many affected individuals do not survive infancy. Syndrome Synonyms: Cerebro-hepato-renal syndrome
Also known as Krause-Kivlin syndrome, this rare genetic condition may affect multiple parts of the body. The most commonly affected part of the body is the eyes. This syndrome is also known as: Krause-kivlin Syndrome Krause-Van Schooneveld-Kivlin syndrome Peters Anomaly With Short-limb Dwarfism Peters’ anomaly-cleft lip and palate-mental retardation-ear anomalies Peters’ plus Peters’-plus