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Results 81 - 90 of 146 for Aplasia of facial bones
Did you mean alaska of facial bones?
  1. Mandibuloacral dysplasia 
    ... is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People ... bulbous finger tips; delayed closure of certain skull bones; and joint ... other skin abnormalities. Some people with this condition have features of ...
    https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia - Genetics
  2. Gaucher disease 
    ... form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  3. Multicentric osteolysis, nodulosis, and arthropathy 
    ... hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the ... bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.Many affected individuals ...
    https://medlineplus.gov/...tric-osteolysis-nodulosis-and-arthropathy - Genetics
  4. Mucolipidosis II alpha/beta 
    ... with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. Affected ... hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," and overgrowth ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  5. 1q21.1 microdeletion 
    ... defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  6. Pseudoachondroplasia 
    ... bone growth and causes the short stature and bone abnormalities seen in pseudoachondroplasia. COMP Pseudoachondroplasia is inherited in ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  7. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... to determine how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  8. X-linked chondrodysplasia punctata 2 
    ... chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although the ... almost all affected individuals have chondrodysplasia punctata, an ... near the ends of bones and in cartilage. In this form of chondrodysplasia ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  9. Genitopatellar syndrome 
    ... inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis ... an usually small head (microcephaly) and structural brain abnormalities, ... may have distinctive facial features such as prominent cheeks and eyes, a ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  10. Yuan-Harel-Lupski syndrome 
    ... the brain and bones in the head and face (craniofacial bones). Research suggests that duplications involving this gene lead to higher-than-normal amounts of the RAI1 protein, which disrupts the ... and facial differences in people with YUHAL syndrome. Duplications that ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
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