Ackerman syndrome Ackerman syndrome is an uncommon and under-recognised cause of arthritis with dermatitis. It is associated with various autoimmune conditions. The clinical and laboratory findings are mainly non-specific, and the most important diagnostic tool for this condition is a skin biopsy. A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, …
Achromatopsia A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. Synonyms ACHM Complete or incomplete color blindness Pingelapese blindness Rod monochromacy Rod monochromatism Total color blindness Incidence How common is Achromatopsia 1-9 / 100000 The prevalence is estimated …
Acheiropodia An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone …
Acatalasemia A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Synonyms Catalase deficiency Incidence How common is Acatalasemia? 1-9 /100000 …
What is Acalvaria? Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. Although its pathogenesis is unclear it has been explained by the theory of post-neurulation defect. It has been considered a fatal …
Abruzzo Erickson syndrome An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Synonyms CHARGE-like syndrome Cleft palate-coloboma-deafness syndrome Cleft palate-coloboma-hearing loss syndrome Incidence How common is Abruzzo Erickson syndrome? <1 / 1000000 To date, 4 cases from a single family have …
Ablepharon macrostomia syndrome An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations …