From HPO
Abnormal hand morphology- MedGen UID:
- 870655
- •Concept ID:
- C4025109
- •
- Anatomical Abnormality
Any structural anomaly of the hand.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Contracture of palmar fascia- MedGen UID:
- 41672
- •Concept ID:
- C0013312
- •
- Disease or Syndrome
Dupuytren contracture is the most common heritable disorder of connective tissue. It is a disease of the soft tissues of the palm and fingers characterized by a progressive thickening and shortening of the fascial structures that normally provide support to the glabrous skin of the palm. Although it can also be a sporadic disorder, the inherited form is most frequently observed among people of Nordic descent. There is a male: female ratio of greater than 3:1 (Hu et al., 2005).
Dupuytren contracture has been associated with multiple fibroproliferative conditions, including Peyronie disease (171000), knuckle pads (149100), congenital generalized fibromatosis (228550), juvenile fibromatosis (228600), and frozen shoulder, suggesting a common underlying defect in wound repair (Hu et al., 2005).
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).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system