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 …
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 …
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 …
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 …
Tetragametic Chimerism Tetragametic Chimerism is a rare condition. This is a sex chromosome disorder of sex development. This condition is characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype. This variable phenotype might be from normal male or female genitalia, to different degrees of ambiguous genitalia, and often may …
Antley Bixler Syndrome A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. Epidemiology Antley-Bixler syndrome (ABS) has been described in more than 100 patients. The relative prevalence of the two main etiologies is unknown but cases due to FGFR2 variants seem rarer than those due to POR variants. Clinical description Children …
Lamb Shaffer Syndrome Lamb Shaffer Syndrome is a rare genetic condition This condition is associated with intellectual disability What are the parameters of intellectual disability? The various parameters of intellectual disability are global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed …