Total 13 clinical symptoms reported for Langer mesomelic dysplasia syndrome
Abnormal carpal morphology |
An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
Synonyms:Abnormal carpal bones; Abnormality of the carpal bones; Anomalous carpal bones; Carpal bone anomalies |
Very frequent |
Abnormality of epiphysis morphology |
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality |
Very frequent |
Abnormality of the ulna |
An abnormality of the ulna bone of the forearm.
|
Very frequent |
Aplasia/Hypoplasia of the fibula |
Absence or underdevelopment of the fibula.
Synonyms:Absent/small calf bone; Absent/underdeveloped calf bone; Fibular aplasia/hypoplasia; Hypoplastic/aplastic fibulae |
Very frequent |
Bowing of the long bones |
A bending or abnormal curvature of a long bone.
Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones |
Very frequent |
Disproportionate short-limb short stature |
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Synonyms:Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism |
Very frequent |
High palate |
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched |
Very frequent |
Madelung deformity |
An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
Synonyms:Madelung wrist deformity |
Very frequent |
Mesomelic/rhizomelic limb shortening |
This information is currently in development.
|
Very frequent |
Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |
Short femoral neck |
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Synonyms:Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone |
Very frequent |
Ulnar deviation of finger |
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Synonyms:Finger bends toward pinky; Ulnar Drift |
Very frequent |