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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 ...
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm. [1] This can be present at birth (), when it is a result of a failure of the bones to form separately, or following an injury (post-traumatic).
Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability.
As a result of having congenital Klippel-Feil syndrome, the spinal anatomy of the individual will present abnormal fusion of any two of the seven cervical bones in the neck. [13] This is considered to be an anomaly of cervical bones. [14] It affects the functioning of cervical spinal nerves (C1 - C8) because of compression on the spinal cord.
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q65-Q79 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 500 people that is more common in men, often asymptomatic, and usually diagnosed incidentally. [1] [2] In this disorder, the patient's kidneys fuse to form a horseshoe-shape during development in the womb.
The variant of MS that fuses the 4th and 5th metacarpals is caused by X-linked recessive mutations (alterations or duplications) in the FGF16 gene, in chromosome X. [10]It is a feature of various rare disorders such as Apert's syndrome, and can occur alongside other isolated congenital hand/foot malformations including syndactyly, cleft hand, metatarsal synostosis, and polydactyly.
Trigonocephaly is a congenital condition due to premature fusion of the metopic suture (from Ancient Greek metopon 'forehead'), leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion.