From HPO
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.
Anterior creases of earlobe- MedGen UID:
- 343677
- •Concept ID:
- C1851897
- •
- Finding
Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Specific learning disability- MedGen UID:
- 871302
- •Concept ID:
- C4025790
- •
- Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Unilateral narrow palpebral fissure- MedGen UID:
- 356621
- •Concept ID:
- C1866805
- •
- Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Unilateral ptosis- MedGen UID:
- 401085
- •Concept ID:
- C1866806
- •
- Finding
A unilateral form of ptosis.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the nervous system
- Ear malformation