Paula and Bobby
Parents of Lillie
What is Acrocraniofacial Dysostosis?
Acrocraniofacial Dysostosis is a rare disease. It is also known as Acro-cranio-facial dysostosis.
Two sisters were reported by Kaplan et al., (1988) who were small for dates. Both had a telecanthus and one had a broad forehead, large anterior fontanelle and a head circumference below the 3rd centile. There was an antimongoloid eye slant, proptosis and ptosis. One had a choanal atresia. The external ears were malformed (mostly the upper helix), and there were preauricular pits. Both had a cleft palate. They had long thumbs, and the fingers and thumbs had broad tips. One of the sibs had premature fusion of the cranial sutures. One died soon after birth and the other was retarded. The large toes seemed thin, proximally placed and curved. Radiologically, the metacarpals, metatarsals and the distal phalanges were short. A thumb in one sib showed partial distal duplication. Other craniosynostosis syndromes were discussed.
* This information is courtesy of the L M D.
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What gene changes cause Acrocraniofacial Dysostosis?
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 - 201050 (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 Acrocraniofacial Dysostosis?
The typical symptoms of the syndrome are:
Abnormal form of the vertebral bodies, Metatarsus adductus, Micrognathia, Pectus excavatum, Low-set, posteriorly rotated ears, Sloping forehead, Tapered finger, Myopia, Anteverted nares, Preauricular pit, Oxycephaly, Sensorineural hearing impairment, Autosomal recessive inheritance, Prominent nasal bridge, Genu valgum, Short stature, Hypertelorism, Short distal phalanx of finger, Short 1st metacarpal, Hypotelorism, Malformation of the heart and great vessels, Abnormal auditory evoked potentials, Craniosynostosis, Conductive hearing impairment, Downslanted palpebral fissures, Telecanthus, Proptosis, Ptosis, Short first metatarsal, Ulnar deviation of finger, Spina bifida occulta, Short philtrum, Microcephaly, Cleft palate, Choanal atresia, Triphalangeal thumb, Advanced eruption of teeth, Abnormal toenail morphology, Abnormality of the vertebral column, Abnormality of the hip bone, Abnormality of periauricular region, Abnormal fingernail morphology, Abnormality of the metacarpal bones, Lacrimation abnormality
How does someone get tested for Acrocraniofacial Dysostosis?
The initial testing for Acrocraniofacial Dysostosis 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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