Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 32

1.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia. [from GeneReviews]

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
2.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Alopecia, androgenetic, 2

Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.
[from GHR]

MedGen UID:
395522
Concept ID:
C2678038
Disease or Syndrome
4.

Alopecia, androgenetic, 3

Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.
[from GHR]

MedGen UID:
382808
Concept ID:
C2676272
Disease or Syndrome
5.

Rectovaginal fistula

The presence of a fistula between the vagina and the rectum. [from HPO]

MedGen UID:
11152
Concept ID:
C0034895
Anatomical Abnormality; Finding
6.

Alopecia

You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .  [from MedlinePlus]

MedGen UID:
7982
Concept ID:
C0002170
Disease or Syndrome; Finding
7.

dysmorphic

MedGen UID:
893259
Concept ID:
CN238735
Finding
8.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [from HPO]

MedGen UID:
505058
Concept ID:
CN001831
Finding
9.

Poikiloderma

Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. [from HPO]

MedGen UID:
504692
Concept ID:
CN000964
Finding
10.

Rectovaginal fistula

The presence of a fistula between the vagina and the rectum. [from HPO]

MedGen UID:
504363
Concept ID:
CN000139
Finding
11.

Growth delay

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

MedGen UID:
500905
Concept ID:
CN001379
Finding
12.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors –particularly of the head and neck, skin, gastrointestinal tract, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
13.

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
428236
Concept ID:
CN000866
Finding
14.

Micrognathia

MedGen UID:
401012
Concept ID:
C1866485
Finding
15.

Short stature, idiopathic, X-linked

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality; Disease or Syndrome
16.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
17.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
18.

Flat face

Absence of concavity or convexity of the face when viewed in profile. [from HPO]

MedGen UID:
342829
Concept ID:
C1853241
Finding
19.

5q- syndrome

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). [from OMIM]

MedGen UID:
196625
Concept ID:
C0740302
Disease or Syndrome
20.

Short palpebral fissure

Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. [from HPO]

MedGen UID:
98067
Concept ID:
C0423112
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center