Mesomelia-synostoses syndrome

Also known as: 8q13 microdeletion syndrome; Del(8)q(13); Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type; Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type; Monosomy 8q13; Verloes-David syndrome

Definition

Orphanet

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Abnormality of the ureter Ureter issue, Ureteral anomalies An abnormality of the ureter.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
Mesomelia Symmetric mesomelic limb shortness, Mesomelic shortening of limbs Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Abnormality of cardiovascular system morphology Cardiovascular malformations, Heart defect Any structural anomaly of the heart and great vessels.
Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Other Classifiers and IDs