Paula and Bobby
Parents of Lillie
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
What is Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis?
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Jung et al., (1995) reported two unrelated children with a similar pattern of malformations. They both had anterior chamber defects, interpreted as Peters' anomaly. Both had cerebellar hypoplasia and one had hypoplasia of the corpus callosum. One case had combined growth hormone, thyroid, and gonadotrophin deficiency whereas the other had isolated hypothyroidism with an elevated TSH and hypoplasia of the thyroid. Both had stenosis of the trachea. Other common features included hip dysplasia, a broad thorax, and dense scalp hair. The face was described as round or broad and the palpebral fissures slanted down, the nose was broad, and the upper lip had a cupid's bow configuration.
Similarities were noted to Peters' plus syndrome (qv) but these cases appeared to have a different syndrome. Two sibs, born to cousin parents (Al-Gazali et al., 2009) had a condition similar to that described by Jung et al., (1995). Both had anterior chamber malformations, growth retardation, and small pituitary glands. No mutationswere found in B3GALTL.
* This information is courtesy of the L M D.
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What gene changes cause Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis?
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.
OMIM Number - 601427 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis?
The typical symptoms of the syndrome are:
Cerebellar hypoplasia, Wide nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Abnormal hair morphology, Abnormality of the genital system, Ocular anterior segment dysgenesis, Abnormality of the dentition, Abnormality of the thorax, Short neck, Stenosis of the external auditory canal, Abnormal form of the vertebral bodies, Low posterior hairline, Muscular hypotonia, Iris coloboma, Cognitive impairment, Growth delay, Growth hormone deficiency, Short foot, Hypoplasia of penis, Hypothyroidism, Hip dysplasia, Depressed nasal bridge, Microcephaly, Round face, Tracheal stenosis, Telecanthus, Recurrent respiratory infections, Congenital hypothyroidism, Dry skin, Dandy-Walker malformation
How does someone get tested for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis?
The initial testing for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 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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