From HPO
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).
Severe postnatal growth retardation- MedGen UID:
- 347510
- •Concept ID:
- C1857641
- •
- Finding
Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Prolonged neonatal jaundice- MedGen UID:
- 347108
- •Concept ID:
- C1859236
- •
- Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Hypopituitarism- MedGen UID:
- 9386
- •Concept ID:
- C0020635
- •
- Disease or Syndrome
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
Isolated prolactin deficiency- MedGen UID:
- 75758
- •Concept ID:
- C0271586
- •
- Finding
A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Anterior pituitary hypoplasia- MedGen UID:
- 347950
- •Concept ID:
- C1859775
- •
- Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Delayed cranial suture closure- MedGen UID:
- 75805
- •Concept ID:
- C0277828
- •
- Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
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.
Macroglossia- MedGen UID:
- 44236
- •Concept ID:
- C0024421
- •
- Disease or Syndrome
Increased length and width of the tongue.
Concave nasal ridge- MedGen UID:
- 78105
- •Concept ID:
- C0264169
- •
- Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
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.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
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).
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Pretibial myxedema- MedGen UID:
- 450990
- •Concept ID:
- C0033103
- •
- Disease or Syndrome
A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
Reduced circulating growth hormone concentration- MedGen UID:
- 82880
- •Concept ID:
- C0271561
- •
- Disease or Syndrome
Concentration of growth hormone in the blood circulation below normal limits.
Decreased thyroid-stimulating hormone level- MedGen UID:
- 717708
- •Concept ID:
- C1295607
- •
- Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Impaired growth-hormone response to insulin stimulation test- MedGen UID:
- 1374054
- •Concept ID:
- C4476958
- •
- Finding
Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
Decreased circulating free T3- MedGen UID:
- 1687899
- •Concept ID:
- C5139195
- •
- Finding
A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
Decreased circulating free T4 concentration- MedGen UID:
- 1743550
- •Concept ID:
- C5421592
- •
- Finding
A reduced concentration of free thyroxine (fT4) in the blood circulation.
Reduced TSH response to thyrotrophin-releasing hormone stimulation test- MedGen UID:
- 1759429
- •Concept ID:
- C5421596
- •
- Finding
A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.
Deeply set eye- MedGen UID:
- 473112
- •Concept ID:
- C0423224
- •
- Finding
An eye that is more deeply recessed into the plane of the face than is typical.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the voice
- Growth abnormality