From HPO
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Aortic valve stenosis- MedGen UID:
- 1621
- •Concept ID:
- C0003507
- •
- Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
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).
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Joint stiffness- MedGen UID:
- 56403
- •Concept ID:
- C0162298
- •
- Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Ectopia lentis- MedGen UID:
- 41704
- •Concept ID:
- C0013581
- •
- Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Raised intraocular pressure- MedGen UID:
- 68606
- •Concept ID:
- C0234708
- •
- Finding
Intraocular pressure that is 2 standard deviations above the population mean.
High myopia- MedGen UID:
- 78759
- •Concept ID:
- C0271183
- •
- Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Shallow anterior chamber- MedGen UID:
- 602215
- •Concept ID:
- C0423276
- •
- Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Microspherophakia- MedGen UID:
- 288328
- •Concept ID:
- C1562061
- •
- Congenital Abnormality
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009).
Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Growth abnormality