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.
Limb undergrowth- MedGen UID:
- 116086
- •Concept ID:
- C0239399
- •
- Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Limited wrist movement- MedGen UID:
- 333479
- •Concept ID:
- C1840088
- •
- Finding
An abnormal limitation of the mobility of the wrist.
Short foot- MedGen UID:
- 376415
- •Concept ID:
- C1848673
- •
- Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Limited elbow movement- MedGen UID:
- 337930
- •Concept ID:
- C1849955
- •
- Finding
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
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).
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Sleep apnea- MedGen UID:
- 11458
- •Concept ID:
- C0037315
- •
- Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Epiphyseal dysplasia- MedGen UID:
- 95932
- •Concept ID:
- C0392476
- •
- Congenital Abnormality
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Tracheal stenosis- MedGen UID:
- 21227
- •Concept ID:
- C0040583
- •
- Disease or Syndrome
Narrowing of the lumen of the trachea.
Subglottic stenosis- MedGen UID:
- 68668
- •Concept ID:
- C0238441
- •
- Anatomical Abnormality
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Hoarse voice- MedGen UID:
- 5602
- •Concept ID:
- C0019825
- •
- Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Thick vermilion border- MedGen UID:
- 332232
- •Concept ID:
- C1836543
- •
- Finding
Increased width of the skin of vermilion border region of upper lip.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Full cheeks- MedGen UID:
- 355661
- •Concept ID:
- C1866231
- •
- Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Thickened skin- MedGen UID:
- 66024
- •Concept ID:
- C0241165
- •
- Finding
Laminar thickening of skin.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth- MedGen UID:
- 57721
- •Concept ID:
- C0151526
- •
- Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Growth abnormality