Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 71 - 80 of 1,291 for Congenital defects
  1. Cantú syndrome 
    ... distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected ... Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  2. Trisomy 18 
    ... Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with ... weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  3. Trichorhinophalangeal syndrome type II 
    ... joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and ... thought to cause the other bone and facial abnormalities. Deletion of the RAD21 gene may contribute to ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  4. Anauxetic dysplasia 
    ... by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), ... be life-threatening during early childhood.Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  5. Palmoplantar keratoderma with deafness 
    ... with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick ... same family, with some individuals developing only skin abnormalities and others developing only hearing loss. Palmoplantar keratoderma ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  6. Osteoporosis-pseudoglioma syndrome 
    ... severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with ... retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
  7. Stüve-Wiedemann syndrome 
    ... syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which ... knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  8. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the ... severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  9. Acrocallosal syndrome 
    ... is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence ... early stages of development before birth. Other brain abnormalities, including the growth of large cysts in brain ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  10. Scalp-ear-nipple syndrome 
    ... its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, ... and brittle fingernails and toenails (nail dystrophy), dental abnormalities including widely-spaced or missing teeth, fusion of ...
    https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome - Genetics
previous · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · 11 · 12 · next