From HPO
Talipes equinovarus- 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).
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Moderate postnatal growth retardation- MedGen UID:
- 870182
- •Concept ID:
- C4024616
- •
- Finding
A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hip contracture- MedGen UID:
- 140815
- •Concept ID:
- C0409354
- •
- Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Epiphyseal stippling- MedGen UID:
- 349104
- •Concept ID:
- C1859126
- •
- Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
Hypoplasia of the nasal bone- MedGen UID:
- 867289
- •Concept ID:
- C4021651
- •
- Finding
Underdevelopment of the nasal bone.
Decreased circulating vitamin K concentration- MedGen UID:
- 1684852
- •Concept ID:
- C5139061
- •
- Finding
The concentration of vitamin K in the blood circulation is below the lower limit of normal.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Hyperkeratosis with erythema- MedGen UID:
- 870445
- •Concept ID:
- C4024891
- •
- Disease or Syndrome
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality