In-depth insights into various childhood syndromes and disorders.
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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; […]
Pitt-Hopkins syndrome is a genetic disorder with symptoms including, intellectual disability, characteristic facial features, and abnormal pattern of respiration or breathing (hyperventilation followed by apnea). Seizures and unique facial features are also considered characteristic of this rare congenital, multiple anomalies disease. Syndrome Synonyms:Encephalopathy, Severe Epileptic, with Autonomic Dysfunction Mental Retardation, Syndromal, with Intermittent Hyperventilation; Pitt-Hopkins-wide […]
Postaxial Acrofacial Dysostosis is a rare genetic syndrome also often referred to as Miller syndrome. Its defining features include craniofacial abnormalities affecting the face and skull, as well as limb abnormalities too. The syndrome is usually identified at birth. There are less than 75 cases currently reported worldwide although it is believed there are a […]
Potocki-Lupski is a rare, recently identified genetic condition that can be difficult to diagnose based on routine chromosome analysis alone, as it is often missed with standard testing. There are just 1000 cases identified worldwide to date but improvements in chromosomal diagnosis are expected to increase that number higher. The syndrome may also be referred […]
Potocki-Shaffer syndrome is a rare genetic syndrome that affects the bones, brain tissue, and other tissues in the body. The syndrome also presents with multiple, non-cancerous bone tumors that very rarely become cancerous. There are currently less than 100 reported cases of the syndrome reported worldwide. It is also known as proximal 11p deletion syndrome. […]
Prader-Willi syndrome is a genetic disorder that is currently the most common cause of life-threatening childhood obesity. In childhood, individuals with the condition develop an insatiable appetite that triggers chronic overeating. The syndrome occurs in 1 in 15,000 live births. Syndrome Synonyms:Prader-Labhart-Willi Syndrome, PWS In 70% of cases, a deletion on the paternal copy of […]