From HPO
Single transverse palmar crease- MedGen UID:
- 96108
- •Concept ID:
- C0424731
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Tapered finger- MedGen UID:
- 98098
- •Concept ID:
- C0426886
- •
- Finding
The gradual reduction in girth of the finger from proximal to distal.
Cutaneous syndactyly of toes- MedGen UID:
- 320423
- •Concept ID:
- C1834737
- •
- Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Flexion contracture of digit- MedGen UID:
- 326595
- •Concept ID:
- C1839864
- •
- Anatomical Abnormality
A bent (flexed) finger or toe 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.
Ectodermal dysplasia- MedGen UID:
- 8544
- •Concept ID:
- C0013575
- •
- Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Epidermal acanthosis- MedGen UID:
- 65136
- •Concept ID:
- C0221270
- •
- Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Knuckle pads- MedGen UID:
- 78103
- •Concept ID:
- C0264000
- •
- Disease or Syndrome
Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'
Milia- MedGen UID:
- 87528
- •Concept ID:
- C0345996
- •
- Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Hypermelanotic macule- MedGen UID:
- 375013
- •Concept ID:
- C1842774
- •
- Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Adermatoglyphia- MedGen UID:
- 338875
- •Concept ID:
- C1852150
- •
- Finding
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
Acral blistering- MedGen UID:
- 1375545
- •Concept ID:
- C4476927
- •
- Finding
Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).
Palmoplantar hypohidrosis- MedGen UID:
- 1678196
- •Concept ID:
- C5194130
- •
- Disease or Syndrome
Decreased sweating on the palms and soles.
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system