From HPO
Delayed ossification of carpal bones- MedGen UID:
- 374771
- •Concept ID:
- C1841684
- •
- Finding
Ossification of carpal bones occurs later than age-adjusted norms.
Short middle phalanx of finger- MedGen UID:
- 337690
- •Concept ID:
- C1846950
- •
- Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Short 1st metacarpal- MedGen UID:
- 376561
- •Concept ID:
- C1849311
- •
- Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Broad middle phalanx of finger- MedGen UID:
- 867025
- •Concept ID:
- C4021383
- •
- Anatomical Abnormality
Increased width of the middle phalanx of finger.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Skeletal dysplasia- MedGen UID:
- 98053
- •Concept ID:
- C0410528
- •
- Disease or Syndrome
A general term describing features characterized by abnormal development of bones and connective tissues.
Cone-shaped epiphysis- MedGen UID:
- 351282
- •Concept ID:
- C1865037
- •
- Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Delayed epiphyseal ossification- MedGen UID:
- 351324
- •Concept ID:
- C1865200
- •
- Finding
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality