Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)

What is Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)?

Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut) is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Bierich et al., (1991) reported three unrelated infants with anophthalmos or microphthalmos and hypothalamic endocrinopathies (growth hormone deficiency, thyroid deficiency, hypogonadotropic hypogonadism). They also reported a case of Fraser syndrome with a hypothalamic disorder. See oculo-pituitary syndrome for a somewhat similar disorder. Note that Bennett et al., (1991) have reported a fetus with anophthalmia, an absent pituitary, hypoplastic adrenal glands and genital abnormalities which had a del(14q22-23). Elliott et al., (1993) reported a similar case with a 14q22 deletion. Lemyre et al., (1998) also reported a girl with anophthalmia and pituitary hypoplasia who had a 14q22-q23 deletion. Ahmad et al., (2003) a family where a male proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. There was a deletion 'on long arm of 14q22q23'.
Rauchman et al., (2001) reported a boy with this combination, who also had nephronophthisis. A mutation in the SIX6 gene could not be detected. The phalanges and metacarpals were short and broad, and there appeared to be osteoporosis.
Phadke et al., (1994) reported a male infant with anophthalmos, micrognathia, a U-shaped cleft palate (Pierre Robin association), large ears, perineal hypospadias and a bifid scrotum. No endocrinological studies were carried out and the infant died at home at 5 months. Similarities to the cases of Bennett et al., (1991) and Elliott et al., (1993) were noted. Fryns (1995) briefly reported seeing two similar cases. Ahmad et al., (2003) a family where a male proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. There was a deletion 'on long arm of 14q22q23'. Similar patients (one with pituitary anomalies) reported by Bakrania also mapped to 14q22 and a mutation was found in BMP4.
Ashkenazi-Hoffnung et al., (2010), reported a family in which the proband had anophthalmia and growth hormone deficiency. His brother was of normal height but had anophthalmia. Their mother had 4 further pregnancies, terminated because of anophthalmia. The father was short and his brothers son had severe microphthalmia, optic nerve hypoplasia and a hypoplastic pituitary. OTX2 mutations were found (14q21). Four novel mutations in OTX2 were reported by Schilter et al., (2011). Additional features were the Wolf-Parkinson-White syndrome and an anteriorly placed anus.

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)?

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

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


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.

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)?

The initial testing for Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut) 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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!