Rare Diseases

EEC Syndrome

EEC Syndrome Epidemiology The exact prevalence is not known. More than 300 cases have been described in the literature. Clinical description The three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate (that can result in speech defects), and abnormalities in several ectodermal …

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Crouzon Syndrome

Crouzon Syndrome Crouzon Syndrome is a rare disease. The clinical features of this Crouzon syndrome characterized by craniosynostosis and facial hypoplasia. Synonyms Crouzon craniofacial dysostosis How common is Crouzon Syndrome? This condition affects approximately 1 to 9 in 1000000 The estimated prevalence in the general population of Europe is 0.9 in 100,000 The incidence of …

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Isaac Syndrome

Isaac Syndrome Isaac Syndrome is a rare disease. Isaac Syndrome is an immune-mediated peripheral motor neuron disorder The salient features of this condition are as below Stiffness in the muscle due to continuous muscle fiber activity at rest Cramps Myokymia Pseudomyotonia Synonyms Acquired neuromyotonia Continuous muscle fiber activity syndrome Isaac-Mertens syndrome Quantal squander syndrome How …

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Waardenburg syndrome

Waardenburg syndrome Waardenburg syndrome (WS) is a rare disease. This condition usually presents with the below clinical features Pigmentation anomalies (abnormalities) of the eyes Varying degrees of hearing abnormalities (deafness) Hair and Skin structural defects / abnormalities – Certain minor defects in structures arising from neural crest, including hair and skin. WS is classified into …

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Pfeiffer syndrome

Pfeiffer syndrome is one of the rare diseases. An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. How common is Pfeiffer syndrome? Pfeiffer syndrome (PS) birth prevalence is 1/100,000. The disorder affects males and …

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White Sutton Syndrome

White Sutton Syndrome A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). Synonyms …

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Beckwith Wiedemann Syndrome

Beckwith Wiedemann Syndrome Beckwith Wiedemann syndrome (BWS) is a rare genetic disorder. This condition is characterized by overgrowth, cancer (tumor) predisposition and congenital malformations. Synonyms Exomphalos-macroglossia-gigantism syndrome Wiedemann-Beckwith syndrome How common is Beckwith Wiedemann Syndrome This disease affects 1 to 5 in 10000 children Most common prevalence – 1 to 5 in 10000 Age of …

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