From HPO
Madelung deformity- MedGen UID:
- 57537
- •Concept ID:
- C0152441
- •
- Congenital Abnormality
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.
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Mesomelia- MedGen UID:
- 107808
- •Concept ID:
- C0549306
- •
- Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Short toe- MedGen UID:
- 322858
- •Concept ID:
- C1836195
- •
- Finding
A toe that appears disproportionately short compared to the foot.
Tibial bowing- MedGen UID:
- 332360
- •Concept ID:
- C1837081
- •
- Finding
A bending or abnormal curvature of the tibia.
Limited wrist movement- MedGen UID:
- 333479
- •Concept ID:
- C1840088
- •
- Finding
An abnormal limitation of the mobility of the wrist.
Short 4th metacarpal- MedGen UID:
- 327074
- •Concept ID:
- C1840309
- •
- Finding
Short fourth metacarpal bone.
Abnormal carpal morphology- MedGen UID:
- 374491
- •Concept ID:
- C1840535
- •
- Anatomical Abnormality
An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
Limited elbow movement- MedGen UID:
- 337930
- •Concept ID:
- C1849955
- •
- Finding
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
Dorsal subluxation of ulna- MedGen UID:
- 338835
- •Concept ID:
- C1851988
- •
- Finding
Partial dislocation of the ulna in the dorsal direction.
Increased carrying angle- MedGen UID:
- 343361
- •Concept ID:
- C1855478
- •
- Finding
An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Abnormal metacarpal morphology- MedGen UID:
- 867255
- •Concept ID:
- C4021615
- •
- Anatomical Abnormality
Any abnormal shape or structure of the metacarpal bones.
Abnormality of the humerus- MedGen UID:
- 867377
- •Concept ID:
- C4021742
- •
- Anatomical Abnormality
An abnormality of the humerus (i.e., upper arm bone).
Abnormal femoral neck morphology- MedGen UID:
- 871148
- •Concept ID:
- C4025621
- •
- Anatomical Abnormality
An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Abnormal metatarsal morphology- MedGen UID:
- 871260
- •Concept ID:
- C4025745
- •
- Anatomical Abnormality
Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Multiple congenital exostosis- MedGen UID:
- 4612
- •Concept ID:
- C0015306
- •
- Congenital Abnormality
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Skeletal muscle hypertrophy- MedGen UID:
- 853739
- •Concept ID:
- C2265792
- •
- Finding
Abnormal increase in muscle size and mass not due to training.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
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).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality