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Items: 15

1.

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
2.

Alopecia

You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .  [from MedlinePlus]

MedGen UID:
7982
Concept ID:
C0002170
Finding; Finding
3.

Ichthyosis

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [from MeSH]

MedGen UID:
7002
Concept ID:
C0020757
Finding; Finding
4.

Hyperkeratosis

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [from HPO]

MedGen UID:
504662
Concept ID:
CN000900
Finding
5.

Ichthyosis

An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [from HPO]

MedGen UID:
429191
Concept ID:
CN007091
Finding
6.

Hyperkeratosis

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [from HPO]

MedGen UID:
209030
Concept ID:
C0870082
Finding
7.

Atrophic condition of skin

Partial or complete wasting (atrophy) of the skin. [from HPO]

MedGen UID:
101793
Concept ID:
C0151514
Finding
8.

Baldness, male pattern

Androgenetic alopecia is characterized by a loss of hair from the scalp that follows a defined pattern (Hamilton, 1951). It occurs in women as well as in men. It is caused by a shortening of the anagen (growth) phase and miniaturization of the hair follicle, which results in the formation of progressively thinner, shorter hair (Bergfeld, 1995). In men, the condition is often referred to as male pattern baldness (MPB) and appears to be androgen-dependent (Hamilton, 1942). The condition is hereditary, and follows a pattern that may be consistent with an autosomal dominant trait (Osborn, 1916). Linkage evidence for an autosomal locus on 3q26 (AGA1) has been identified (Hillmer et al., 2008). See 300710 (AGA2) for a discussion of X linkage of androgenetic alopecia. A third locus has been found on chromosome 20p11 (AGA3; 612421). [from OMIM]

MedGen UID:
56404
Concept ID:
C0162311
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
Finding
10.

Hypotrichosis

Congenital lack of hair growth. [from HPO]

MedGen UID:
6993
Concept ID:
C0020678
Finding; Finding; Finding
11.

X-linked dominant chondrodysplasia punctata

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. [from ORDO]

MedGen UID:
797888
Concept ID:
CN204483
Disease or Syndrome
12.

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
13.

Chondrodysplasia, megarbane-dagher-melki type

MedGen UID:
413221
Concept ID:
C2750075
Disease or Syndrome
14.

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

MedGen UID:
375146
Concept ID:
C1843285
Disease or Syndrome
15.

Hypotrichosis 2

Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. [from OMIM]

MedGen UID:
374435
Concept ID:
C1840299
Disease or Syndrome
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