From HPO
Abnormality of cardiovascular system morphology- MedGen UID:
- 892473
- •Concept ID:
- C4049796
- •
- Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormal pinna morphology- MedGen UID:
- 167800
- •Concept ID:
- C0857379
- •
- Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Abnormality of metabolism/homeostasis- MedGen UID:
- 867398
- •Concept ID:
- C4021768
- •
- Finding
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Narrow palpebral fissure- MedGen UID:
- 382506
- •Concept ID:
- C2675021
- •
- Finding
Reduction in the vertical distance between the upper and lower eyelids.
Preauricular skin tag- MedGen UID:
- 395989
- •Concept ID:
- C1860816
- •
- Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the ear
- Abnormality of the integument
- Abnormality of the musculoskeletal system