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Items: 11

1.

Metaphyseal chondrodysplasia, McKusick type

The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature which is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility and often fine silky hair, immunodeficiency, anemia, impaired spermatogenesis, gastrointestinal dysfunction, and increased risk for malignancy. The most severe phenotype (AD), which has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family. [from GeneReviews]

MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality; Disease or Syndrome
2.

Bronchiectasis

Persistent abnormal dilatation of the bronchi. [from MeSH]

MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
3.

Bronchiectasis

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. [from HPO]

MedGen UID:
505109
Concept ID:
CN001911
Finding
4.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
765377
Concept ID:
C3552463
Finding; Sign or Symptom
5.

Abnormality of humoral immunity

An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. [from HPO]

MedGen UID:
461860
Concept ID:
C3150510
Finding
6.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
7.

Growth failure

Less than normal linear growth in an infant or child.(AE) [from NCI_NICHD]

MedGen UID:
163904
Concept ID:
C0878787
Disease or Syndrome
8.

Abnormality of the bronchi

The bronchi are two tubes that branch off the trachea, or windpipe. The bronchi carry air to your lungs. The most common problem with the bronchi is bronchitis, an inflammation of the tubes. Bronchitis can be acute or chronic. Other problems include. -Bronchiectasis, a condition in which damage to the airways causes them to widen and become flabby and scarred. -Exercise-induced bronchospasm, which happens when the airways shrink while you are exercising. -Bronchiolitis, an inflammation of the small airways that branch off from the bronchi. -Bronchopulmonary dysplasia, a condition affecting infants. Treatment of bronchial disorders depends on the cause.  [from MedlinePlus]

MedGen UID:
14233
Concept ID:
C0006261
Disease or Syndrome
9.

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
10.

Chondrodysplasia punctata

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [from NCI]

MedGen UID:
3052
Concept ID:
C0008445
Congenital Abnormality; Disease or Syndrome
11.

Chondrodysplasia punctata 2 X-linked dominant

The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including adults with no recognizable physical abnormalities. At least 95% of liveborn individuals with CDPX2 are female with the following findings: Growth deficiency/short stature. Distinctive craniofacial appearance. Skeletal changes: stippling (chondrodysplasia punctate) on x-rays of the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen in children prior to completion of normal epiphyseal ossification; rhizomelic (i.e., proximal) shortening of limbs that is often asymmetric; scoliosis. Ectodermal changes: linear or blotchy scaling ichthyosis in the newborn that usually resolves in the first months of life leaving linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; occasional flattened or split nails; normal teeth. Ocular changes: cataracts; microphthalmia and/or microcornea. Intellect is usually normal. Rarely affected males have been identified with a phenotype that includes: hypotonia; moderate to profound developmental delay; seizures; cerebellar (primarily vermis) hypoplasia and/or Dandy-Walker variant; and agenesis of the corpus callosum. [from GeneReviews]

MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
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