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  2. Clinodactyly - Wikipedia

    en.wikipedia.org/wiki/Clinodactyly

    Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. [citation needed] Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. [2] Many syndromes are associated with clinodactyly, including those listed below.

  3. Tethered cord syndrome - Wikipedia

    en.wikipedia.org/wiki/Tethered_cord_syndrome

    This can lead to additional loss of movement or feeling, or the onset of pain or autonomic nervous system symptoms. [6] In adults, onset of symptoms typically include: Severe pain (in the lower back and radiating into the legs, groin, and perineum) Bilateral muscle weakness and numbness; Loss of feeling and movement in lower extremities

  4. Syringomyelia - Wikipedia

    en.wikipedia.org/wiki/Syringomyelia

    The damage may result in loss of feeling, paralysis, weakness, [4] and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms.

  5. Neurogenic claudication - Wikipedia

    en.wikipedia.org/wiki/Neurogenic_claudication

    Pain, tingling, tiredness, weakness, numbness or heaviness in the legs, hips, glutes and lower back: Complications: Persistent pain in the lower body, difficulties standing, walking, exercising or performing general tasks, discomfort during sleep, bowel or bladder dysfunction: Causes

  6. Cornelia de Lange syndrome - Wikipedia

    en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome

    If pain or a medical issue is the cause, once treated, the behaviour diminishes. There is evidence for some features of premature aging including the early development of Barrett's esophagus , osteoporosis present in the teenage years, premature greying of hair and some changes to the skin of the face causing a more aged appearance compared to ...

  7. Primary ciliary dyskinesia - Wikipedia

    en.wikipedia.org/wiki/Primary_ciliary_dyskinesia

    Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do ...

  8. Pitt–Hopkins syndrome - Wikipedia

    en.wikipedia.org/wiki/Pitt–Hopkins_syndrome

    Gastrointestinal difficulties are common in individuals with Pitt-Hopkins and can include constipation, reflux, and burping. Severe constipation often occurs over the entire lifespan. Breathing issues may cause air swallowing and associated pain. Low muscle tone can cause feeding issues at an early age. [14]

  9. Craniosynostosis and dental anomalies - Wikipedia

    en.wikipedia.org/wiki/Craniosynostosis_and...

    Features of this condition include, by area affected: [1] [3] Head or neck: convex nasal ridge, delayed tooth eruption, dental crowding, dental malocclusion, depressed nasal bridge, downslanted palpebral fissures, flat forehead, high forehead, high palate, mandibular prognathia, midface retrusion, narrow palate, sloping forehead, supernumerary teeth, and wide nose