Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 1 to 20 of 21

1.

Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). [from OMIM]

MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
2.

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
3.

Distal arthrogryposis type 2B

Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). [from OMIM]

MedGen UID:
320374
Concept ID:
C1834523
Disease or Syndrome
4.

Contractures

An abnormal, often permanent shortening of muscle or scar tissue that results in deformity of a joint of the body [from CHV]

MedGen UID:
3227
Concept ID:
C0009917
5.

Arthrogryposis

Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect. [from MCA/MR]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome
6.

Distal arthrogryposis

A form of arthrogryposis primarily affecting the hands and the feet. [from HPO]

MedGen UID:
505849
Concept ID:
CN005034
Finding
7.

Congenital contracture

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [from HPO]

MedGen UID:
505360
Concept ID:
CN002533
Finding
8.

Flexion contracture

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [from HPO]

MedGen UID:
504817
Concept ID:
CN001256
Finding
9.

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310). [from OMIM]

MedGen UID:
419371
Concept ID:
C2931264
Congenital Abnormality
10.

Arthrogryposis multiplex congenita

MedGen UID:
375261
Concept ID:
C1843695
Finding
11.

Renpenning syndrome 1

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome. [from OMIM]

MedGen UID:
208670
Concept ID:
C0796135
Disease or Syndrome
12.

Distal arthrogryposis

MedGen UID:
120512
Concept ID:
C0265213
Disease or Syndrome
13.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
14.

Congenital contracture

MedGen UID:
83066
Concept ID:
C0332878
Congenital Abnormality
15.

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
16.

Distal

Situated farthest from a point of reference. [from NCI]

MedGen UID:
64375
Concept ID:
C0205108
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.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
19.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
20.

Congenital Abnormality

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

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality

Display Settings:

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...