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).
Absent phalangeal crease- MedGen UID:
- 349522
- •Concept ID:
- C1862479
- •
- Finding
Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Tarsal synostosis- MedGen UID:
- 539393
- •Concept ID:
- C0265654
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that 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 of joints.
Fused cervical vertebrae- MedGen UID:
- 854386
- •Concept ID:
- C3887527
- •
- Congenital Abnormality
A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Fused thoracic vertebrae- MedGen UID:
- 868272
- •Concept ID:
- C4022664
- •
- Congenital Abnormality
A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Antecubital pterygium syndrome- MedGen UID:
- 401231
- •Concept ID:
- C1867439
- •
- Disease or Syndrome
Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system