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Results 1 - 10 of 1,243 for aplasia
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  1. Congenital deafness with labyrinthine aplasia, microtia, and microdontia 
    Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. ...
    https://medlineplus.gov/...rinthine-aplasia-microtia-and-microdontia - Genetics
  2. Müllerian aplasia and hyperandrogenism 
    Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by ... upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent ...
    https://medlineplus.gov/.../mullerian-aplasia-and-hyperandrogenism - Genetics
  3. Nonsyndromic aplasia cutis congenita 
    Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). ...
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita - Genetics
  4. Aicardi syndrome 
    ... People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the ... people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  5. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... 1. Some individuals with MRKH syndrome also have abnormalities in other parts of the body; in these ... unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). People with ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
  6. 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
  7. Diamond-Blackfan anemia 
    ... People with this condition often also have physical abnormalities affecting various parts of the body.The major ... of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size ( ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  8. Genitopatellar syndrome 
    ... syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.The genital ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  9. Schwartz-Jampel syndrome 
    ... characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of ... chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  10. Opitz G/BBB syndrome 
    ... syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" ... box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
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