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Items: 1 to 20 of 128

1.

Currarino triad

MedGen UID:
323460
Concept ID:
C1531773
Congenital Abnormality; Disease or Syndrome
2.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Disease or Syndrome; Finding
3.

Microcephalus

Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [from HPO]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality; Disease or Syndrome
4.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
5.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
6.

Microcephaly

Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [from HPO]

MedGen UID:
473122
Concept ID:
C0424688
Finding
7.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
8.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
9.

Sensorineural hearing loss

Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. [from MeSH]

MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
10.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
5453
Concept ID:
C0018772
Finding
11.

Mental deficiency

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
12.

Sacral agenesis

Absence (aplasia) of the sacrum. [from HPO]

MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
13.

Caudal regression syndrome

Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord, or tufts of hair at the base of the spine. People with caudal regression syndrome can also have an abnormal side-to-side curvature of the spine (scoliosis). The spinal abnormalities may affect the size and shape of the chest, leading to breathing problems in some individuals.Individuals with caudal regression syndrome may have small hip bones with a limited range of motion. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, most frequently the upper leg bones (femurs). In some individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). Affected individuals may be born with inward- and upward-turning feet (clubfeet), or the feet may be outward- and upward-turning (calcaneovalgus). Some people experience decreased sensation in their lower limbs.Abnormalities in the genitourinary tract in caudal regression syndrome are extremely varied. Often the kidneys are malformed; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities can lead to frequent urinary tract infections and progressive kidney failure. Additionally, affected individuals may have protrusion of the bladder through an opening in the abdominal wall (bladder exstrophy). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Genital abnormalities in males can include the urethra opening on the underside of the penis (hypospadia) or undescended testes (cryptorchidism). Females may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, both males and females have a lack of development of the genitalia (genital agenesis).People with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may experience loss of control of bladder and bowel function.
[from GHR]

MedGen UID:
81254
Concept ID:
C0300948
Congenital Abnormality
14.

Lipoma

Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. [from HPO]

MedGen UID:
44173
Concept ID:
C0023798
Neoplastic Process
15.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
16.

Agenesis

A congenital abnormality resulting in the absence of an anatomical structure. (NCI) [from NCI_CDISC]

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality; Functional Concept
17.

severe microcephaly

MedGen UID:
851842
Concept ID:
CN233212
Finding
18.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
19.

Growth delay

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

MedGen UID:
765377
Concept ID:
C3552463
Finding; Sign or Symptom
20.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality
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