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Items: 1 to 20 of 27

1.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery. [from GTR]

MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
2.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
3.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
4.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
5.

Dwarfism

A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. [from MeSH]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
6.

Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [from HPO]

MedGen UID:
500957
Concept ID:
CN003167
Finding
7.

Limb undergrowth

Limb shortening because of underdevelopment of one or more bones of the extremities. [from HPO]

MedGen UID:
429865
Concept ID:
CN008683
Finding
8.

Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [from HPO]

MedGen UID:
342370
Concept ID:
C1849937
Finding
9.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
10.

short extremities

Absence (due to failure to form) or underdevelopment of the extremities. [from HPO]

MedGen UID:
116086
Concept ID:
C0239399
Finding
11.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
12.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
13.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
14.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
15.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
16.

Dyschondroplasia

MedGen UID:
3933
Concept ID:
C0013366
Congenital Abnormality
17.

Disorder of bone development

Any disorder of development of the bone. [from NCI]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
18.

Achondroplasia

Achondroplasia is the most common process resulting in disproportionate small stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia). In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. [from GTR]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
19.

Severe achondroplasia with developmental delay and acanthosis nigricans

SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood. [from GTR]

MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
20.

Abnormality of cartilage morphology

Any abnormality of cartilage. [from HPO]

MedGen UID:
892834
Concept ID:
C4073186
Anatomical Abnormality
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