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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.
Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. [1] Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology. [1]
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1]
Webbed neck. Webbed neck. Other names. Pterygium colli deformity. Teenage girl with Turner syndrome and webbed neck. Specialty. Medical genetics. 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.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Torticollis is a fixed or dynamic tilt, rotation, with flexion or extension of the head and/or neck. The type of torticollis can be described depending on the positions of the head and neck. [1][3][4] laterocollis: the head is tipped toward the shoulder. rotational torticollis: the head rotates along the longitudinal axis towards the shoulder ...
In tetrapods, cervical vertebrae (sg.: vertebra) are the vertebrae of the neck, immediately below the skull. Truncal vertebrae (divided into thoracic and lumbar vertebrae in mammals) lie caudal (toward the tail) of cervical vertebrae. [ 1 ] In sauropsid species, the cervical vertebrae bear cervical ribs. In lizards and saurischian dinosaurs ...
Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities. [1] [2] It is thought to be inherited in an autosomal ...