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 …
Fatco Syndrome A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. Synonyms: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome Hecht-Scott syndrome Prevalence: <1 /1000000
Donnai Barrow Syndrome Donnai Barrow Syndrome is a rare congenital disease This condition is characterized by eye problems, facial deformities, intellectual disabilities, hearing loss, deformities in the brain and low-molecular-weight proteinuria. Synonyms DBS/FOAR syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome FOAR syndrome Facio-oculo-acoustico-renal syndrome Holmes-Schepens syndrome Syndrome of ocular and facial …
Ayazi syndrome Ayazi syndrome is a rare disease This condition is an X-linked retinal dystrophy. Ayazi syndrome is characterized by the below features. choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Synonyms Choroideremia deafness …
ANCA Associated Vasculitis Antineutrophil cytoplasm antibody (ANCA) associated vasculitis (AAV) describes a family of small to medium vessel systemic vasculitis that shares many overlapping features including clinical manifestations and therapies but also has distinct differences among each condition (granulomatosis with polyangiitis [GPA], microscopic polyangiitis [MPA], and eosinophilic granulomatosis with polyangiitis [EGPA]). These vasculitides are characterized …