Coach syndrome

What is Coach syndrome?

Coach syndrome is a rare disease. It is also known as Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Joubert Syndrome With Congenital Hepatic Fibrosis Mental retardation - retinitis pigmentosa.

Members of a inbred Pakistani family had, nystagmus, astigmatism, mental retardation and retinitis pigmentosa (Noor et al., 2008). One of the adults had in addition, cataracts.
NOTE - in an addendum (Noor et al., 2008), these authors state that when the MRIs were reviewed the features were those (including the molar tooth sign) of Joubert syndrome.

* This information is courtesy of the L M D.

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What gene changes cause Coach syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 216360 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
INPP5E - 9q34.3
RPGRIP1L - 16q12.2
TMEM67 - 8q22.1
CC2D2A - 4p15.32

What are the main symptoms of Coach syndrome?

The typical symptoms of the syndrome are:
Abnormality of neuronal migration, Anteverted nares, Neoplasm of the liver, Narrow forehead, Nephronophthisis, Nephropathy, Low-set, posteriorly rotated ears, Long face, Tremor, Intellectual disability, moderate, Muscular hypotonia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Iris coloboma, Hepatomegaly, Hepatic fibrosis, Visual impairment, Incoordination, Prominent nasal bridge, Hernia of the abdominal wall, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hyperreflexia, Cognitive impairment, Growth delay, Abnormality of the hypothalamus-pituitary axis, Global developmental delay, Gait disturbance, Oral cleft, Cirrhosis, Chronic hepatic failure, Cerebellar vermis hypoplasia, Ataxia, Apnea, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Abnormal oral cavity morphology, Biliary tract abnormality, Optic nerve coloboma, Elevated hepatic transaminase, Encephalocele, Feeding difficulties in infancy, Congenital hepatic fibrosis,

How does someone get tested for Coach syndrome?

The initial testing for Coach syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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