From HPO
Slender build- MedGen UID:
- 376828
- •Concept ID:
- C1850573
- •
- Finding
Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Torsion dystonia- MedGen UID:
- 3941
- •Concept ID:
- C0013423
- •
- Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Torticollis- MedGen UID:
- 11859
- •Concept ID:
- C0040485
- •
- Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Limb dystonia- MedGen UID:
- 152944
- •Concept ID:
- C0751093
- •
- Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Gait ataxia- MedGen UID:
- 155642
- •Concept ID:
- C0751837
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Generalized dystonia- MedGen UID:
- 341342
- •Concept ID:
- C1848954
- •
- Finding
A type of dystonia that affects all or most of the body.
Hemidystonia- MedGen UID:
- 743329
- •Concept ID:
- C1960561
- •
- Disease or Syndrome
Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.
Dysphonia- MedGen UID:
- 282893
- •Concept ID:
- C1527344
- •
- Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
Narrow face- MedGen UID:
- 373334
- •Concept ID:
- C1837463
- •
- Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Sunken cheeks- MedGen UID:
- 869726
- •Concept ID:
- C4024154
- •
- Finding
Lack or loss of the soft tissues between the zygomata and mandible.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the nervous system
- Abnormality of the voice
- Growth abnormality