From HPO
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
3-4 toe syndactyly- MedGen UID:
- 371723
- •Concept ID:
- C1834062
- •
- Finding
Syndactyly with fusion of toes three and four.
4-5 toe syndactyly- MedGen UID:
- 324891
- •Concept ID:
- C1837836
- •
- Finding
Syndactyly with fusion of toes four and five.
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
4-5 metacarpal synostosis- MedGen UID:
- 395341
- •Concept ID:
- C1859768
- •
- Anatomical Abnormality
Absent distal interphalangeal creases- MedGen UID:
- 350011
- •Concept ID:
- C1861349
- •
- Finding
Absence of the distal interphalangeal flexion creases of the fingers.
Enlarged proximal interphalangeal joints- MedGen UID:
- 348334
- •Concept ID:
- C1861350
- •
- Finding
Cutaneous finger syndactyly- MedGen UID:
- 866898
- •Concept ID:
- C4021254
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Joint contracture of the hand- MedGen UID:
- 56382
- •Concept ID:
- C0158113
- •
- Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly of finger- MedGen UID:
- 98041
- •Concept ID:
- C0409348
- •
- Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Carpal synostosis- MedGen UID:
- 98468
- •Concept ID:
- C0431863
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
- Abnormality of limbs
- Abnormality of the musculoskeletal system