In-depth insights into various childhood syndromes and disorders.
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Osteopathia Striata with Cranial Sclerosis 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; Hyperostosis generalisata with striations The syndrome is […]
Otopalatodigital syndrome 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, and hearing loss. However, Type 2 of the syndrome is a much more severe form and generally, individuals with […]
Otospondylomegaepiphyseal Dysplasia 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. This syndrome is also known as:Chondrodystrophy with Sensorineural Deafness; Nance-Insley Syndrome; Nance-Sweeney; Chondrodysplasia OSMED; Oto-spondylo-megaepiphyseal dysplasia; Formerly, Weissenbacher-Zweymuller […]
Pallister-Hall syndrome 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:Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly; Hypothalamic-hamartoblastoma syndrome Changes in the GLI3 gene […]
Pallister-Killian syndrome is a very rare genetic condition with just 150 recorded cases to date. However 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 […]
Partington syndrome 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:Partington X-Linked Mental […]
Peho syndrome 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 […]
Peroxisome Biogenesis Disorder is a rare disease, 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 […]
Peters plus syndrome, also referred to as Krause-Kivlin syndrome, is a rare genetic disorder that can impact various parts of the body, with the eyes being the most commonly affected area. 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 […]