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Results: 1 to 20 of 51

1.

Klippel Feil syndrome

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, and autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies. [from OMIM]

MedGen UID:
9645
Concept ID:
C0022738
Congenital Abnormality
2.

Cervical vertebral fusion (C2/C3)

Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. [from HPO]

MedGen UID:
505659
Concept ID:
CN004080
Finding
3.

Poland anomaly

Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. [from OMIM]

MedGen UID:
10822
Concept ID:
C0032357
Disease or Syndrome
4.

A 7

MedGen UID:
56568
Concept ID:
C0163299
Pharmacologic Substance
5.

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
6.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
7.

Fused cervical vertebrae

MedGen UID:
505420
Concept ID:
CN002670
Finding
8.

Low posterior hairline

MedGen UID:
355889
Concept ID:
C1865008
Finding
9.

Short neck

MedGen UID:
99267
Concept ID:
C0521525
Finding
10.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
11.

Unilateral

Affecting one side of the body or one of a pair of organs. [from NCI]

MedGen UID:
64372
Concept ID:
C0205092
12.

Congenital Abnormality

Malformations of organs or body parts during development in utero. [from MeSH]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
13.

Polysyndactyly

MedGen UID:
78565
Concept ID:
C0265553
Congenital Abnormality
14.

Congenital anomaly of limb

Congenital structural deformities of the upper and lower extremities collectively or unspecified. [from MeSH]

MedGen UID:
60222
Concept ID:
C0206762
Congenital Abnormality
15.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Disease or Syndrome
16.

Syndactyly

A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. [from MeSH]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
17.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
18.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:: - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
19.

Congenital abnormal Synostosis

A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed) [from MeSH]

MedGen UID:
11689
Concept ID:
C0039093
Congenital Abnormality
20.

Disorder of musculoskeletal system

condition in which there is a deviation from or interruption of the normal structure or function of any muscles, bones, or cartilages of the body. [from CRISP]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome

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