Aberfeld syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) chondrodysplasia (variably manifesting with short stature pectus carinatum kyphoscoliosis bowing of long bones epiphyseal, metaphyseal, and hip dysplasia Synonyms Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Dysostosis …
Aase Syndrome A very rare genetic disorder This disease characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly) cleft palate severe joint contractures Synonyms Aase-Smith I syndrome Hydrocephalus-cleft palate-joint contractures syndrome Incidence How common is Aase Syndrome <1/1000000 Less than 20 cases have been reported in the literature Inheritance Autosomal dominant Age of …
ANOTHER Syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There …
AMME syndrome A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males It has been described in two families. The syndrome …
3 Interesting Facts of Aplasia Cutis Congenita Aplasia cutis congenita (APC) is an uncommon disorder (~3 cases/100,000 births) but is the most common cause of a congenital scarring alopecia. No treatment is required. Conservative intervention, particularly to promote healing when ulceration is present, includes topical petrolatum, silver sulfadiazine cream, or dressings that contain epidermal growth …
Ataxia Telangiectasia Ataxia telangiectasia (AT) is a rare autosomal recessive disorder of childhood that results from defective DNA repair mechanisms. AT is a multisystem disease characterized by progressive cerebellar ataxia, choreoathetosis, oculocutaneous telangiectasias, frequent infections, increased sensitivity to ionizing radiation, and predisposition to malignancies. Epidemiology & Demographics Incidence 1/40,000 live births; it is estimated that …
8 Interesting Facts of Autoimmune Hemolytic Anemia Autoimmune hemolytic anemia is a rare heterogenous disorder in which autoantibodies target RBC antigens, resulting in the premature destruction of RBCs with inadequate compensation Classified into warm autoimmune hemolytic anemia and cold autoimmune hemolytic anemia based on the optimal autoantibody-RBC reactivity temperatures, both of which may be primary …