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).
Hernia- MedGen UID:
- 6816
- •Concept ID:
- C0019270
- •
- Finding
The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.
Congenital hip dislocation- MedGen UID:
- 9258
- •Concept ID:
- C0019555
- •
- Disease or Syndrome
Recurrent joint dislocation- MedGen UID:
- 102356
- •Concept ID:
- C0158100
- •
- Injury or Poisoning
Dislocation of a given joint repeated times.
Generalized joint hypermobility- MedGen UID:
- 322888
- •Concept ID:
- C1836308
- •
- Finding
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Hemoptysis- MedGen UID:
- 5502
- •Concept ID:
- C0019079
- •
- Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Atrophic scars- MedGen UID:
- 57875
- •Concept ID:
- C0162154
- •
- Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin- MedGen UID:
- 66826
- •Concept ID:
- C0241181
- •
- Finding
Skin that splits easily with minimal injury.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
Molluscoid pseudotumors- MedGen UID:
- 375465
- •Concept ID:
- C1844597
- •
- Disease or Syndrome
Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
Soft, doughy skin- MedGen UID:
- 341366
- •Concept ID:
- C1849043
- •
- Finding
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
Cigarette-paper scars- MedGen UID:
- 342099
- •Concept ID:
- C1851828
- •
- Finding
Thin (atrophic) and wide scars.
Subcutaneous spheroids- MedGen UID:
- 927609
- •Concept ID:
- C4293700
- •
- Pathologic Function
Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system