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Items: 1 to 20 of 80

1.

Arthrogryposis multiplex congenita

A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [from HPO]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome; Finding
2.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
4.

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 GTR]

MedGen UID:
419371
Concept ID:
C2931264
5.

Oculomelic amyoplasia

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE. [from GTR]

MedGen UID:
350678
Concept ID:
C1862472
Disease or Syndrome
6.

Macular dystrophy

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [from HPO]

MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
7.

Distal arthrogryposis

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

MedGen UID:
120512
Concept ID:
C0265213
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.

Exophoria

MedGen UID:
101827
Concept ID:
C0152217
Disease or Syndrome
10.

Ophthalmoplegia

Paralysis of one or more extraocular muscles that are responsible for eye movements. [from HPO]

MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
11.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
12.

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:
3227
Concept ID:
C0009917
Anatomical Abnormality
13.

Autosomal dominant inheritance

MedGen UID:
879993
Concept ID:
CN235389
Finding
14.

Ptosis

MedGen UID:
833459
Concept ID:
CN207031
Finding
15.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
16.

Height / growth measure

The height of a person while standing. [from NCI]

MedGen UID:
452503
Concept ID:
C0424639
Finding
17.

Unilateral ptosis

A unilateral form of ptosis. [from HPO]

MedGen UID:
401085
Concept ID:
C1866806
Finding
18.

Fibrosis of extraocular muscles, congenital, 1

Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability. [from GTR]

MedGen UID:
376943
Concept ID:
C1851102
Disease or Syndrome
19.

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 GTR]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality
20.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
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