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.
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 […]
PCDH19-related epilepsy, also called PCDH19 clustering epilepsy, is a rare genetic epilepsy that primarily affects females. It typically causes seizures beginning in infancy or early childhood, often occurring in clusters and sometimes triggered by fever. Developmental, learning, behavioral, and psychiatric features vary considerably between individuals. The condition has historically been classified as developmental and epileptic encephalopathy 9, […]
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 […]
Pfeiffer syndrome is a rare genetic syndrome. It includes the premature fusion of specific skull bones, as well as thumb anomalies and anomalies affecting the large toes. Other main features include protruding eyes and hearing loss. There are currently 3 main types of the syndrome that have been identified. They vary in their causes and […]
Phelan-Mcdermid syndrome or 22q13 deletion syndrome as it is also known may trigger varying levels of symptoms. 75% of individuals diagnosed with the syndrome are also on the Autism spectrum. This rare disease also presents with global developmental delay, intellectual disability, low muscle tone, and distinct facial features. Syndrome Synonyms:Chromosome 22q13.3 Deletion Syndrome; Telomeric 22q13 […]
Pierpont syndrome is a rare genetic syndrome that affects multiple parts of the body. Most of the features associated with the syndrome are congenital, meaning they are present at birth. Unique facial features and limb anomalies are characteristics of the syndrome. This syndrome is also known as:Plantar Lipomatosis, Unusual Facies, and Developmental Delay Changes to […]
Pierre Robin Sequence is a rare genetic syndrome that is characterized by a number of unique symptoms. These symptoms include distinct facial features and intellectual disability. It is also referred to as Richieri Costa Pereira syndrome. It has been reported mainly in families of Brazilian descent. This syndrome is also known as:Acrofacial dysostosis- Richieri-Costa-Pereira type; […]