From HPO
2-3 finger cutaneous syndactyly- MedGen UID:
- 96573
- •Concept ID:
- C0432055
- •
- Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.
3-4 toe syndactyly- MedGen UID:
- 371723
- •Concept ID:
- C1834062
- •
- Finding
Syndactyly with fusion of toes three and four.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
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.
3-4 finger cutaneous syndactyly- MedGen UID:
- 868712
- •Concept ID:
- C4023115
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
1-4 finger cutaneous syndactyly- MedGen UID:
- 869303
- •Concept ID:
- C4023729
- •
- Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints.
Joint contracture of the hand- MedGen UID:
- 56382
- •Concept ID:
- C0158113
- •
- Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Microdontia- MedGen UID:
- 66008
- •Concept ID:
- C0240340
- •
- Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
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.
Selective tooth agenesis- MedGen UID:
- 370882
- •Concept ID:
- C1970308
- •
- Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
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.
Hyperhidrosis- MedGen UID:
- 5690
- •Concept ID:
- C0020458
- •
- Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Macular dystrophy- MedGen UID:
- 196451
- •Concept ID:
- C0730292
- •
- Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system