Wildervanck syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Wildervanck syndrome is a medical condition as a result of prenatal developmental disorder that was first described by the Dutch physician LS Wildervanck. It is also known as cervico-oculo-acousticus syndrome due to the triad of symptoms with Klippel-Feil syndrome , Duane syndrome and congenital inner ear hearing loss.

Epidemiology

Duane syndrome patient

Wildervanck syndrome is a very rare disease. Since it was first described in 1952, around 90 cases have been described worldwide. The disease almost exclusively affects girls. It is believed that up to 1% of girls with congenital inner ear hearing loss could be affected by Wildervanck syndrome. In 2014, a male child with Wildervanck syndrome was described.

Pathophysiology

The exact cause of the disease is not known. It occurs sporadically and is presumably a multifactorial inheritance. Since almost exclusively girls are affected, an involvement of the X chromosome is suspected. Affected male children are not viable. A microdeletion on the X chromosome was found in a male affected, which has been discussed as possibly causing the syndrome.

Appearance

Child with Klippel-Feil Syndrome

The Wildervanck syndrome is characterized by the triad of symptoms of Klippel-Feil syndrome, Duane syndrome and congenital inner ear hearing loss. This triad may be incomplete, but there may also be other symptoms such as intellectual impairment. In addition to Klippel-Feil syndrome, those affected often have a very short neck, sometimes combined with a torticollis . This can lead to neurological complaints. There may be a hairline drawn far down towards the nape of the neck and facial asymmetry. Cases of Sprengel deformity and scolioses have been described.

In addition to Duane's syndrome, Wildervanck patients can also develop other eye deformities such as idiopathic papillary edema, lens malformations or vitreous cysts.

The inner ear hearing loss can be unilateral or bilateral. In addition to structural changes in the inner ear, neurological causes such as the lack of the vestibulocochlear nerve can also be the cause.

Other non-typical accompanying symptoms are skull and facial malformations such as microcephaly , cleft palate or hydrocephalus . Heart and kidney malformations or other skeletal malformations or short stature can also occur. Intellectual abilities are usually unaffected, but there are also cases of intellectual disability.

therapy

The therapy is based on the symptoms and, in addition to orthopedic operations or eye surgery, can also consist of special early support in order to enable normal participation and professional training based on the potential and abilities of those affected . Genetic counseling should be given to those affected and their families .

Individual evidence

↑ Wildervanck, LS The cervico-oculo-acusticus syndrome. in: Vinken, PJ; Bruyn, GW; Myranthopoulos, NC: Handbook of Clinical Neurology. Amsterdam: North Holland (pub.) 32: 1978. pp. 123-130.
↑ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p Wildervanck Syndrome on the website of NORD (National Organization for Rare Disorders) (accessed on May 13, 2016)
↑ ^a ^b Wildervanck syndrome in the OMIM database
↑ Wildervanck Syndrome in the Orphanet (accessed on May 13, 2016)

[WV1978-1] Wildervanck, LS The cervico-oculo-acusticus syndrome. in: Vinken, PJ; Bruyn, GW; Myranthopoulos, NC: Handbook of Clinical Neurology. Amsterdam: North Holland (pub.) 32: 1978. pp. 123-130.

[RD-2] ↑ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p Wildervanck Syndrome on the website of NORD (National Organization for Rare Disorders) (accessed on May 13, 2016)

[Omim-3] Wildervanck syndrome in the OMIM database

[Orphanet-4] Wildervanck Syndrome in the Orphanet (accessed on May 13, 2016)