From HPO
Aplasia/Hypoplasia of the distal phalanges of the toes- MedGen UID:
- 892342
- •Concept ID:
- C4021326
- •
- Finding
Absence or underdevelopment of the distal phalanges of the toes.
Syncope- MedGen UID:
- 21443
- •Concept ID:
- C0039070
- •
- Sign or Symptom
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Tachycardia- MedGen UID:
- 21453
- •Concept ID:
- C0039231
- •
- Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Premature ventricular contraction- MedGen UID:
- 56236
- •Concept ID:
- C0151636
- •
- Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Isolated Pierre-Robin syndrome- MedGen UID:
- 19310
- •Concept ID:
- C0031900
- •
- Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Submucous cleft hard palate- MedGen UID:
- 98472
- •Concept ID:
- C0432103
- •
- Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Posteriorly placed tongue- MedGen UID:
- 870167
- •Concept ID:
- C4024600
- •
- Anatomical Abnormality
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system