From HPO
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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.
Stenosis of the external auditory canal- MedGen UID:
- 140758
- •Concept ID:
- C0395837
- •
- Finding
An abnormal narrowing of the external auditory canal.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cleft at the superior portion of the pinna- MedGen UID:
- 400734
- •Concept ID:
- C1865302
- •
- Finding
Overfolding of the superior helices- MedGen UID:
- 355437
- •Concept ID:
- C1865304
- •
- Finding
A condition in which the superior portion of the helix is folded over to a greater degree than normal.
Hypoplastic superior helix- MedGen UID:
- 355438
- •Concept ID:
- C1865305
- •
- Finding
Snoring- MedGen UID:
- 20006
- •Concept ID:
- C0037384
- •
- Sign or Symptom
Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.
Speech articulation difficulties- MedGen UID:
- 400736
- •Concept ID:
- C1865313
- •
- Finding
Impairment in the physical production of speech sounds.
Mild global developmental delay- MedGen UID:
- 861405
- •Concept ID:
- C4012968
- •
- Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Short mandibular rami- MedGen UID:
- 331097
- •Concept ID:
- C1841648
- •
- Finding
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Temporomandibular joint ankylosis- MedGen UID:
- 444041
- •Concept ID:
- C2931375
- •
- Disease or Syndrome
Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
Apnea- MedGen UID:
- 2009
- •Concept ID:
- C0003578
- •
- Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Microglossia- MedGen UID:
- 10029
- •Concept ID:
- C0025988
- •
- Congenital Abnormality
Decreased length and width of the tongue.
Narrow mouth- MedGen UID:
- 44435
- •Concept ID:
- C0026034
- •
- Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Glossoptosis- MedGen UID:
- 78623
- •Concept ID:
- C0267048
- •
- Disease or Syndrome
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Mandibular condyle aplasia- MedGen UID:
- 140776
- •Concept ID:
- C0399570
- •
- Finding
Mandibular condyle hypoplasia- MedGen UID:
- 96029
- •Concept ID:
- C0399572
- •
- Finding
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation