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Results: 1 to 20 of 95

1.

Error occurred: cannot get document summary

ID:
441161

2.

Goldenhar syndrome

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, cardiac, and limb, can be seen. [from GeneReviews]

MedGen UID:
75554
Concept ID:
C0265240
Disease or Syndrome
3.

Facial asymmetry

Congenital or acquired asymmetry of the face. [from MeSH]

MedGen UID:
266298
Concept ID:
C1306710
Anatomical Abnormality
4.

Microsomia hemifacial radial defects

MedGen UID:
67392
Concept ID:
C0220681
Congenital Abnormality
5.

Microtia

MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
6.

Cleft lip

Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. [from MeSH]

MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
7.

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
8.

Pregnancy

The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. [ISBN:0192800825] [from GO]

MedGen UID:
10895
Concept ID:
C0032961
9.

Congenital ocular coloboma

Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.
[from GHR]

MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
10.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
11.

Vesicoureteral reflux

MedGen UID:
506983
Concept ID:
CN178398
Disease or Syndrome
12.

Bilateral cleft lip and palate

MedGen UID:
506878
Concept ID:
CN178293
Disease or Syndrome
13.

Coloboma

A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa. [from HPO]

MedGen UID:
504512
Concept ID:
CN000552
Finding
14.

Microphthalmos

A developmental anomaly characterized by abnormal smallness of one or both eyes. [from HPO]

MedGen UID:
504501
Concept ID:
CN000533
Finding
15.

Facial asymmetry

An abnormal difference between the left and right sides of the face. [from HPO]

MedGen UID:
504421
Concept ID:
CN000304
Finding
16.

Cleft upper lip

A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [from HPO]

MedGen UID:
504391
Concept ID:
CN000197
Finding
17.

Hemifacial microsomia

MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
18.

Hemifacial hyperplasia

The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962). [from OMIM]

MedGen UID:
452987
Concept ID:
C1399354
Congenital Abnormality
19.

Bilateral cleft lip

MedGen UID:
451046
Concept ID:
C0392005
Congenital Abnormality
20.

Error occurred: cannot get document summary

ID:
449612

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