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Items: 11

1.

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 GeneReviews]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
2.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Mosaicism

The presence ono more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
4.

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. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include. -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 . -Bones can also develop cancer and infections. - Other bone diseases, which are caused by poor nutrition, genetics, 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
5.

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
6.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
7.

Dyschondroplasias

MedGen UID:
3933
Concept ID:
C0013366
Congenital Abnormality
8.

Dwarfism

A dwarf is a person of short stature - under 4' 10 as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.  [from MedlinePlus]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
9.

Disorder of bone development

Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. [from MeSH]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
10.

Chromosomal anomaly

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
11.

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 GHR]

MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
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