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.
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.
Rudimentary fibula- MedGen UID:
- 337066
- •Concept ID:
- C1844706
- •
- Finding
Absent or nearly absent fibula. (Does not include aplastic)
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
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.
Mesomelic arm shortening- MedGen UID:
- 350587
- •Concept ID:
- C1862087
- •
- Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Rhizomelic arm shortening- MedGen UID:
- 409853
- •Concept ID:
- C1969532
- •
- Finding
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
Broad ulna- MedGen UID:
- 892713
- •Concept ID:
- C4025460
- •
- Anatomical Abnormality
Increased width of the ulna.
Mesomelic short stature- MedGen UID:
- 340834
- •Concept ID:
- C1855274
- •
- Finding
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
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
- Abnormality of the nervous system
- Growth abnormality