Goldenhar syndrome is a craniofacial syndrome, which means that it causes certain abnormalities in the formation of the face and head. It is considered a rare disease and a congenital one, meaning it’s present at birth. Goldenhar is present in just 1 out of every 3,500 to 25,000 babies at birth. Another name for Goldenhar is oculoauriculovertebral dysplasia.
In people with Goldenhar syndrome, abnormalities appear mostly in the areas of the ears, eyes, and spine. This condition can also affect the structure of the face, and some internal organs. The severity of the abnormalities and symptoms varies by individual.
The symptoms of Goldenhar and their severity are extremely variable from one individual to another. The most recognizable symptom is the presence of facial abnormalities, in particular hemifacial microsomia. These occur when the bones and muscles in the face are underdeveloped on just one side of the face. Those with Goldenhar may also have a cleft lip or cleft palate.
Other characteristics of the syndrome include defects in the eyes, ears, and spine. This can mean growths on the eyes, small eyes, missing eyelids, small ears, missing ears, ear tags, or even hearing loss. In the spine, Goldenhar can cause incomplete development of vertebrae, or fused or missing vertebrae. Many people with the syndrome end up with scoliosis, or a curved spine, as a result.
There are other less common, and less visible, symptoms as well. Between 5 and 15 percent of people with Goldenhar have some degree of intellectual disability. Some also have abnormalities in internal organs, which most commonly include congenital heart defects. Defects affecting the kidneys and limbs are rare.
Goldenhar syndrome is a congenital disease, meaning that it is present in infants when they are born. The cause is an abnormality in a chromosome. It is usually not inherited.
In about 1 or 2 percent of cases, though, the condition is inherited as a genetic disorder. In these cases, it is either autosomal dominant or recessive. This term means that the gene or genes causing it are found on a chromosome that is not related to sex. The genes can either be dominant or recessive, but dominant is more common. No one has yet pinpointed the specific genes that are responsible.
There is no one genetic or chromosomal test to identify Goldenhar syndrome. A doctor or specialist makes a diagnosis by examining an infant or child and identifying the symptoms of the syndrome. When it is diagnosed, the child usually needs to have further tests, such as hearing and vision tests. A doctor may also take an X-ray of the spine to check for problems with vertebrae. To look for heart or kidney problems, a doctor may order ultrasound imaging tests of those organs.
Treatment for Goldenhar syndrome varies greatly depending on the needs of the individual. In some mild cases, no treatment is needed. Children may need to work with a hearing specialist or speech therapist for hearing issues, or may need a hearing aid. If there are vision problems, corrective surgery or glasses may be needed. Surgery may also be needed to correct heart or spinal defects. Children with an intellectual disability may need to work with education specialists.
The outlook for children with Goldenhar syndrome varies, but it’s generally very positive. Most children can expect to live a healthy life once treatments have been administered. The majority can expect to have a normal lifespan and a normal level of intelligence.
Goldenhar syndrome ni ugonjwa wa uso wa kichwa unaosababisha kutokuwa na utaratibu wa uso na kichwa. Inachukuliwa kuwa ugonjwa nadra na wa kuzaliwa, ikimaanisha kuwa upo wakati wa kuzaliwa. Goldenhar ni ugonjwa wa kawaida kwa watoto 3,500 hadi 25,000 wanaozaliwa. Jina jingine la Goldenhar ni oculoauriculovertebral dysplasia. Katika watu walio na ugonjwa wa Goldenhar, kasoro huonekana hasa katika maeneo ya masikio, macho, na uti wa mgongo. Hali hii pia yaweza kuathiri muundo wa uso, na viungo fulani vya ndani. Ukali wa kasoro na dalili hutofautiana kutoka kwa mtu mmoja hadi mwingine. Dalili za Goldenhar na uzito wake hutofautiana sana kutoka mtu mmoja hadi mwingine. Dalili inayojulikana zaidi ni uwepo wa kasoro za uso, hasa microsomia ya hemifacial. Matatizo hayo hutokea wakati mifupa na misuli ya uso haijakua vizuri upande mmoja tu wa uso. Wale walio na Goldenhar wanaweza pia kuwa na mdomo uliogawanyika au mdomo uliogawanyika. Dalili nyingine za ugonjwa huo zinatia ndani kasoro za macho, masikio, na uti wa mgongo. Hii inaweza kumaanisha ukuaji kwenye macho, macho madogo, kupotea kwa paji la jicho, masikio madogo, kusikika kwa masikio, alama za masikio, au hata upotezaji wa kusikia. Katika uti wa mgongo, Goldenhar inaweza kusababisha maendeleo yasiyo kamili ya uti wa mgongo, au uti wa mgongo uliounganishwa au unaokosa. Watu wengi walio na ugonjwa huo huishia kuwa na ugonjwa wa uti wa mgongo, au uti wa mgongo uliojipinda. Kuna dalili nyingine zisizo za kawaida, na zisizoonekana sana pia. Kati ya asilimia 5 na 15 ya watu wenye ugonjwa wa Goldenhar wana kiwango fulani cha ulemavu wa akili. Wengine pia wana kasoro katika viungo vya ndani, ambazo kwa kawaida hutia ndani kasoro za moyo za kuzaliwa. Kasoro zinazoathiri figo na viungo ni nadra. Ugonjwa wa Goldenhar ni ugonjwa wa kuzaliwa, ikimaanisha kwamba unapatikana kwa watoto wachanga wanapozaliwa. Kisababishi ni kasoro katika kromosomu. Kwa kawaida hali hiyo haipatikani kwa urithi. Hata hivyo, katika asilimia 1 au 2 ya visa, ugonjwa huo husababishwa na urithi. Katika visa hivyo, ugonjwa huo ni wa autosomal dominant au wa recessive. Neno hilo linamaanisha kwamba jeni au jeni zinazosababisha ugonjwa huo zinapatikana kwenye kromosomu ambayo haihusiani na jinsia. Jeni hizo zaweza kuwa zenye kutawala au zenye kupungua, lakini zenye kutawala ni za kawaida zaidi. Bado hakuna mtu aliyeweza kutambua chembe za urithi hususa zinazohusika. Hakuna mtihani mmoja wa maumbile au wa kromosomu wa kutambua ugonjwa wa Goldenhar. Daktari au mtaalamu hufanya utambuzi kwa kumchunguza mtoto mchanga au mtoto na kutambua dalili za ugonjwa huo. Kwa kawaida, mtoto anapogunduliwa kuwa na ugonjwa huo, anahitaji kufanyiwa uchunguzi zaidi, kama vile uchunguzi wa kusikia na kuona. Daktari anaweza pia kuchukua picha ya X-ray ya uti wa mgongo ili kuchunguza ikiwa kuna matatizo ya uti wa mgongo. Ili kutafuta matatizo ya moyo au figo, daktari aweza kuagiza uchunguzi wa picha za ultrasound za viungo hivyo. Matibabu ya ugonjwa wa Goldenhar hutofautiana sana ikitegemea mahitaji ya mtu mmoja-mmoja. Katika visa fulani vidogo, hakuna matibabu yanayohitajiwa. Watoto wanaweza kuhitaji kufanya kazi na mtaalamu wa kusikia au mtaalamu wa hotuba kwa matatizo ya kusikia, au wanaweza kuhitaji kifaa cha kusikia. Ikiwa kuna matatizo ya kuona, huenda ikawa lazima afanyiwe upasuaji au avaliwe miwani. Upasuaji waweza pia kuhitajiwa ili kurekebisha kasoro za moyo au za uti wa mgongo. Huenda watoto wenye ulemavu wa akili wakahitaji kufanya kazi pamoja na wataalamu wa elimu. Matarajio ya watoto wenye ugonjwa wa Goldenhar hutofautiana, lakini kwa ujumla ni mazuri sana. Watoto wengi wanaweza kutarajia kuishi maisha yenye afya baada ya matibabu kutolewa. Wengi wanaweza kutarajia kuwa na maisha ya kawaida na kiwango cha kawaida cha akili.