From HPO
Aplasia of the inner ear- MedGen UID:
- 540032
- •Concept ID:
- C0266604
- •
- Congenital Abnormality
Absence of the inner ear due to a developmental defect.
Anteverted ears- MedGen UID:
- 384047
- •Concept ID:
- C1857055
- •
- Finding
Microtia, first degree- MedGen UID:
- 866821
- •Concept ID:
- C4021175
- •
- Anatomical Abnormality
Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.
Profound sensorineural hearing impairment- MedGen UID:
- 868926
- •Concept ID:
- C4023338
- •
- Disease or Syndrome
Complete loss of hearing related to a sensorineural defect.
Delayed gross motor development- MedGen UID:
- 332508
- •Concept ID:
- C1837658
- •
- Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Jugular foramen stenosis- MedGen UID:
- 393170
- •Concept ID:
- C2674495
- •
- Pathologic Function
Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.
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.
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.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Prominent nose- MedGen UID:
- 98423
- •Concept ID:
- C0426415
- •
- Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Long face- MedGen UID:
- 324419
- •Concept ID:
- C1836047
- •
- Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Peg-shaped maxillary lateral incisors- MedGen UID:
- 870609
- •Concept ID:
- C4025060
- •
- Finding
A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter
Skin tags- MedGen UID:
- 11452
- •Concept ID:
- C0037293
- •
- Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
- Abnormality of head or neck
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation