From HPO
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
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.
Ectrodactyly- MedGen UID:
- 78566
- •Concept ID:
- C0265554
- •
- Congenital Abnormality
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short toe- MedGen UID:
- 322858
- •Concept ID:
- C1836195
- •
- Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Absent hallux- MedGen UID:
- 374772
- •Concept ID:
- C1841686
- •
- Finding
Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Absent tibia- MedGen UID:
- 478374
- •Concept ID:
- C3276744
- •
- Finding
Absence of the tibia.
Absent toe- MedGen UID:
- 766668
- •Concept ID:
- C3553754
- •
- Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Oligodactyly- MedGen UID:
- 854358
- •Concept ID:
- C3887496
- •
- Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
3-4 finger cutaneous syndactyly- MedGen UID:
- 868712
- •Concept ID:
- C4023115
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Finger symphalangism- MedGen UID:
- 867041
- •Concept ID:
- C4021399
- •
- Anatomical Abnormality
An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.
Contracture of the proximal interphalangeal joint of the 3rd finger- MedGen UID:
- 867109
- •Concept ID:
- C4021467
- •
- Anatomical Abnormality
Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
Contracture of the proximal interphalangeal joint of the 4th finger- MedGen UID:
- 867145
- •Concept ID:
- C4021503
- •
- Anatomical Abnormality
Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
- Abnormality of limbs
- Abnormality of the musculoskeletal system