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 …
Cornelia de Lange syndrome Cornelia de Lange syndrome (CdLS) is a rare disease This condition is a multisystem disorder How common is Cornelia de Lange syndrome Cornelia de Lange syndrome is most common at birth. Males and females are affected equally. As per the current medical literature, more than 400 cases been reported, with the …
Mayer Rokitansky Kuster Hauser syndrome This condition is one of the rare disease Mayer Rokitansky Kuster Hauser syndrome is a spectrum of Mullerian duct anomalies Features of Mayer Rokitansky Kuster Hauser syndrome This disease is characterized by congenital aplasia of upper 2/3 of the vagina and the uterus. Classification of MRKH syndrome This disease classified …
Feingold syndrome This is a rare genetic condition A congenital malformation syndrome Features of Feingold syndrome This disease is characterized by the below features Mild learning deficits short stature Short palpebral fissures microcephaly numerous digital anomalies like brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs How common is Feingold syndrome <1 / 1000000 …