Paula and Bobby
Parents of Lillie
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.
* This information is courtesy of the L M D.
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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:
What are the main symptoms of Anophthalmos - microphthalmos-hypothalamic disorders (OTX2 mut)?
The typical symptoms of the syndrome are:
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.
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