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Results 91 - 100 of 2,826 for Congenital defects
  1. CHOPS syndrome 
    CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  2. Coloboma 
    Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as ... People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye ( ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. Otopalatodigital syndrome type 2 
    ... syndrome type 2 is a disorder primarily involving abnormalities in skeletal development. It is a member of ... the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits). Otopalatodigital syndrome ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-2 - Genetics
  4. Gillespie syndrome 
    Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems ... get smaller (constrict) in response to light. These abnormalities are thought to result from problems in the ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  5. Sturge-Weber syndrome 
    ... affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. ... birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  6. Mandibulofacial dysostosis with microcephaly 
    ... with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this ... problems are also common in this disorder.Facial abnormalities that occur in MFDM include underdevelopment of the ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  7. Baller-Gerold syndrome 
    ... premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.People ... and a saddle-shaped or underdeveloped nose.Bone abnormalities in the hands include missing fingers (oligodactyly) and ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  8. Saul-Wilson syndrome 
    ... characterized by short stature (dwarfism) and other skeletal abnormalities. The growth problems in Saul-Wilson syndrome are ... that is sometimes described as progeroid.Additional skeletal abnormalities in Saul-Wilson syndrome include abnormalities in the ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  9. Peters plus syndrome 
    ... an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft ... Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  10. Duane-radial ray syndrome 
    ... a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This ... Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
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