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Items: 7

1.

Turner syndrome

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
[from GHR]

MedGen UID:
21734
Concept ID:
C0041408
Disease or Syndrome
2.

Growth Hormone

A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. [from MeSH]

MedGen UID:
20836
Concept ID:
C0037663
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
3.

KTS; Vascular overgrowth

MedGen UID:
851801
Concept ID:
CN233165
Finding
4.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
5.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
6.

Chromosome 6 ring syndrome

A syndrome in which both ends of chromosome 6 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Intrauterine and postnatal growth retardation, mental retardation, and facial and ocular abnormalities are the most frequent manifestations. [from MCA/MR]

MedGen UID:
167069
Concept ID:
C0795814
Disease or Syndrome
7.

Growth failure

Less than normal linear growth in an infant or child. [from NCI]

MedGen UID:
163904
Concept ID:
C0878787
Disease or Syndrome
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