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  2. Otofacial syndrome - Wikipedia

    en.wikipedia.org/wiki/Otofacial_syndrome

    Otofacial syndrome is an extraordinarily rare congenital deformity in which a person is born without a mandible, and, consequently, without a chin.. In nearly all cases, the child does not survive because they are unable to breathe and eat properly.

  3. Proximal femoral focal deficiency - Wikipedia

    en.wikipedia.org/wiki/Proximal_femoral_focal...

    There are typically four classes (or types) of PFFD, ranging from class A to class D, as detailed by Aitken. [4] [5]Type A — The femur bone is slightly shorter on the proximal end (near the hip), and the femoral head (the ball of the thigh bone that goes into the hip socket) may not be solid enough to be seen on X-rays at birth, but later hardens (ossifies).

  4. Klippel–Feil syndrome - Wikipedia

    en.wikipedia.org/wiki/Klippel–Feil_syndrome

    Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). [1]: 578 It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline ...

  5. Congenital amputation - Wikipedia

    en.wikipedia.org/wiki/Congenital_amputation

    A baby hand affected by amniotic band syndrome. Congenital amputation is birth without a limb or limbs, or without a part of a limb or limbs.. It is known to be caused by blood clots forming in the fetus while in utero (vascular insult) and from amniotic band syndrome: fibrous bands of the amnion that constrict fetal limbs to such an extent that they fail to form or actually fall off due to ...

  6. Congenital vertebral anomaly - Wikipedia

    en.wikipedia.org/wiki/Congenital_vertebral_anomaly

    One study found that male German Shepherd Dogs with a lumbosacral transitional vertebra are at greater risk for cauda equina syndrome, which can cause rear limb weakness and incontinence. [ 11 ] The significance of transitional vertebrae has been questioned by one study finding similar prevalence in the general population as those with low back ...

  7. Noonan syndrome - Wikipedia

    en.wikipedia.org/wiki/Noonan_syndrome

    Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1] Heart problems may include pulmonary valve stenosis. [1] The breast bone may either protrude or be sunken, while the spine may be abnormally curved. [1] Intelligence is often normal. [1] Complications of NS can include leukemia ...

  8. Treacher Collins syndrome - Wikipedia

    en.wikipedia.org/wiki/Treacher_Collins_syndrome

    TLC's Born Without a Face [50] features Juliana Wetmore, who was born with the most severe case in medical history of this syndrome and is missing 30%–40% of the bones in her face. [50] In 2010, BBC Three documentary Love Me, Love My Face [51] covered the case of a man, Jono Lancaster, with the condition.

  9. Webbed neck - Wikipedia

    en.wikipedia.org/wiki/Webbed_neck

    A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms