Disease Information for Mullerian failure, congenital/MURCS

MURCS Association; Mullerian Duct Aplasia-Renal Aplasia-Cervicothoracic Somite Dysplasia; Mullerian Duct and Renal Agenesis with Upper Limb and Rib Anomalies; Mullerian Duct-Renal-Cervicothoracic-Upper Limb Defects; Mullerian-Renal-Cervicothoracic Somite Abnormalities; MURCS association is a very rare developmental disorder that affects only females; The acronym MURCS stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities; This rare disorder is characterized by the absence of the uterus, cervix, and upper part of the vagina (mullerian aplasia); kidney (renal) abnormalities, including absent (agenic) and/or improperly positioned (ectopic) kidneys; and/or malformations of the spinal column, ribs, and/or arms; Some affected females may exhibit additional physical abnormalities, such as malformations of the head and facial (craniofacial) area; In individuals with MURCS association, symptoms vary from case to case; MURCS association appears to occur randomly, with no apparent cause (sporadic); Some researchers suggest that the malformations associated with this disorder may result from abnormal changes in cellular material (blastema) in portions of the embryo that later develop into the arms, certain bones (vertebrae) in the spinal column, the kidneys, and adjacent structures (e.g., fallopian tubes); [NORD]---------------------------------------------------.

Mullerian Aplasia; Mullerian Duct Aplasia; Mullerian Duct Failure; Mullerian Aplasia is a rare disorder that affects only females; It is characterized by the absence of the uterus, the cervix, and the upper part of the vagina in a female who has normal ovarian function and normal external genitalia; Although females with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), the failure of menstrual cycles to begin (primary amenorrhea) is usually the initial symptom; The exact cause of Mullerian Aplasia is not known; The unusual physical characteristics associated with this disorder seem to result from developmental abnormalities during embryonic or fetal growth;[NORD]

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