Paula and Bobby
Parents of Lillie
Cerebellofaciodental syndrome; CFDS
What is Cerebellofaciodental syndrome; CFDS?
Cerebellofaciodental syndrome; CFDS is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Borck et al. (2015) described an autosomal recessive disorder characterized by intellectual disability, dysmorphic features, short stature, microcephaly with cerebellar hypoplasia, and dental anomalies. Dysmorphic features included sparse eyebrows, wave-shaped palpebral fissures, low-set ears, malocclusion, and prominent upper incisors. Short stature and microcephaly were of prenatal onset. Additional features included scoliosis and sparse hair. Three children had laryngeal stridor/laryngomalacia. Brain MRI revealed a pattern that was reminiscent of TSEN-related pontocerebellar hypoplasia with a very thin corpus callosum, a flattened brainstem, and cerebellar vermis hypoplasia; the pons was relatively well formed. Skull and orthopanoramic x-rays showed bialveolar protrusion with prominent alveolar processes as well as taurodontism. Whole-exome sequencing revealed biallelic missense mutations in BRF1.
Jee et al. (2016) described two additional siblings with biallelic mutations in BRF1. The clinical characteristics were low birth weight, microcephaly, developmental delay, midface hypoplasia, anteverted nares, wide nasal bridge, down-sloping upper lip, prominent enlarged superior central incisors, a long philtrum and micrognathia. The patients showed failure to thrive and short stature. MRI showed small brainstem with flattening of the inferior vermis, cerebellar hemisphere volume loss, periventricular leukomalacia with marked white matter volume loss posteriorly, and thinning of the corpus callosum.
* This information is courtesy of the L M D.
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What gene changes cause Cerebellofaciodental syndrome; CFDS?
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 - 616202 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
BRF1 - 14q32.33
What are the main symptoms of Cerebellofaciodental syndrome; CFDS?
The typical symptoms of the syndrome are:
Dental malocclusion, Cerebellar hypoplasia, Taurodontia, Short neck, Sparse hair, Microcephaly, Hypoplasia of the pons, Sparse and thin eyebrow, Slender long bone, Scoliosis, Laryngeal stridor, Laryngomalacia, Low-set ears, Tapered finger, Macrodontia of permanent maxillary central incisor, Intellectual disability, Global developmental delay, Short stature
How does someone get tested for Cerebellofaciodental syndrome; CFDS?
The initial testing for Cerebellofaciodental syndrome; CFDS 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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