From HPO
2-3 toe cutaneous syndactyly- MedGen UID:
- 98470
- •Concept ID:
- C0432040
- •
- Congenital Abnormality
4-5 toe syndactyly- MedGen UID:
- 324891
- •Concept ID:
- C1837836
- •
- Finding
Syndactyly with fusion of toes four and five.
2-4 finger cutaneous syndactyly- MedGen UID:
- 866881
- •Concept ID:
- C4021236
- •
- Anatomical Abnormality
A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints.
Cutaneous finger syndactyly- MedGen UID:
- 866898
- •Concept ID:
- C4021254
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Palmar hyperkeratosis- MedGen UID:
- 869284
- •Concept ID:
- C4023710
- •
- Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand.
Heat intolerance- MedGen UID:
- 66659
- •Concept ID:
- C0231274
- •
- Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Conical tooth- MedGen UID:
- 82730
- •Concept ID:
- C0266037
- •
- Congenital Abnormality
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
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.
Pili torti- MedGen UID:
- 82670
- •Concept ID:
- C0263491
- •
- Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Hypoplastic toenails- MedGen UID:
- 332409
- •Concept ID:
- C1837279
- •
- Finding
Underdevelopment of the toenail.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Absent facial hair- MedGen UID:
- 376305
- •Concept ID:
- C1848192
- •
- Finding
Absence of facial hair.
Patchy alopecia- MedGen UID:
- 350774
- •Concept ID:
- C1862862
- •
- Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the integument