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Results: 9

1.

Costello syndrome

Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults. [from GeneReviews]

MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
2.

Keratoconus

A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed) [from MeSH]

MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Keratoconus

A cone-shaped deformity of the cornea. [from HPO]

MedGen UID:
504498
Concept ID:
CN000528
Finding
5.

Brittle cornea syndrome

Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness. [from ORDO]

MedGen UID:
797347
Concept ID:
CN206409
Disease or Syndrome
6.

Corneal shape

MedGen UID:
734646
Concept ID:
C1531859
Finding
7.

Acute hydrops

MedGen UID:
568965
Concept ID:
C0333230
Disease or Syndrome
8.

Irregular astigmatism

MedGen UID:
508922
Concept ID:
C0152194
Disease or Syndrome
9.

Corneal thinning

MedGen UID:
473349
Concept ID:
C1096274
Disease or Syndrome

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