Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Also known as: Houlston-Ironton-Temple syndrome

Definition

Orphanet

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

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Symptoms

Medical Term Other Names Description
Abnormal cardiac septum morphology Septal defects, Heart septal defect, Abnormality of the cardiac septa [more] An anomaly of the intra-atrial or intraventricular septum.
Blepharophimosis Decreased width of palpebral fissure, Narrow opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Rectovaginal fistula The presence of a fistula between the vagina and the rectum.
Finger clinodactyly Curvature of finger
Anteriorly placed anus Anus anteposition, Anteriorly displaced anus Anterior malposition of the anus.
Clinodactyly of the 5th finger Clinodactyly of fifth digit, Clinodactyly of the little finger, Curvature of little finger, Curvature of pinkie finger, Bilateral fifth digit clinodactyly, Fifth finger clinodactyly, Curvature of pinky finger, Bilateral fifth finger clinodactyly [more] Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Aplasia of the 1st metacarpal Absent first metacarpal, Absent 1st long bone of hand In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Atrioventricular canal defect Endocardial cushion defect, Atrioventricular septal defect A defect of the atrioventricular septum of the heart.

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