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Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids , preauricular skin tags and strabismus . [ 1 ]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
Dankelson was born in Michigan in the year 2000. [1] He was born 10 weeks early and weighed less than three pounds. [2] He was born with numerous birth defects such as microtia and atresia due to Goldenhar syndrome, and has had 36 surgeries to correct his facial, airway and other deformities. [3]
Goldenhar syndrome; H. Harlequin-type ichthyosis; Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease;
There is a known association with Goldenhar syndrome (oculo-auriculo-vertebral syndrome) [8] and with Wildervanck syndrome. [9] [10] [11] There may also be an association with congenital cartilaginous rest of the neck. [citation needed]
Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau syndrome [5] DiGeorge syndrome [6] Cri du chat syndrome; Edwards syndrome; Fragile X syndrome; Okamoto syndrome; It is usually bilateral, but it can be unilateral (one sided) in Goldenhar syndrome. [7]
Living among a small band of Neanderthals in what is now eastern Spain was a child, perhaps 6 years old, with Down syndrome, as shown in a remarkable fossil preserving traits in the inner ear ...
Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible.It usually occurs on one side of the face, but both sides are sometimes affected.