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Hypoplastic facial bones
- ... which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily involve the ribs and spinal bones ( ...
- ... cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as underdeveloped cheek bones (malar hypoplasia), a small lower jaw (micrognathia), and ...
- ... growth, people with TRPS1 gene mutations develop abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS ...
- ... including an unusually large head (macrocephaly) and abnormal facial features. Males who survive infancy have bone abnormalities and heart, gastrointestinal, and genitourinary malformations. AMER1 gene ...
- ... dolichocephaly) with a prominent forehead and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
- ... dolichocephaly) with a prominent forehead and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
- ... dolichocephaly) with a prominent forehead and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
- ... dolichocephaly) with a prominent forehead and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
- ... associated with Weissenbacher-Zweymüller syndrome, a disorder of bone growth characterized by skeletal abnormalities, hearing loss, and distinctive facial features. These signs and symptoms are similar to ...
- ... II). TRPS II is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and ...
