Paula and Bobby
Parents of Lillie
Aase-Smith syndrome I
What is Aase-Smith syndrome I?
Aase-Smith syndrome I is a rare disease. It is also known as Aase-smith Syndrome Joint Contractures With Other Abnormalities.
Aase and Smith (1968) and Patton et al., (1985) reported families with this condition. In both reports there was vertical transmission from parent to child. The Dandy-Walker malformation is probably secondary to cerebellar hypoplasia. Variable expression occurred in both families. The parent on both occasions was mildly affected. Other features noted were cleft palate, congenital heart defect and extended, rigid fingers without flexion creases. David et al., (1996) reported a 25-week fetus with multiple joint contractures associated with Dandy-Walker malformation and cerebellar vermis aplasia. They pointed out the difficulty in diagnosing Aase-Smith syndrome In an isolated case due to the variability of the condition.
Becker and Splitt (2001) reported a family where a mother and two children had cleft palate and distal joint contractures, consistent with a diagnosis of Gordon syndrome. In a third pregnancy, a fetus was identified with a posterior fossa cyst, consistent with a Dandy-Walker variant. Ultrasound also showed micrognathia, unilateral equinovarus talipes and fixed extension of all the fingers. The facies is this family were very similar to those reported by Robinow and Johnson (1981) as cases of Gordon syndrome.
* This information is courtesy of the L M D.
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What gene changes cause Aase-Smith syndrome I?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 - 147800 (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 Aase-Smith syndrome I?
The typical symptoms of the syndrome are:
Open mouth, Slender finger, Autosomal dominant inheritance, Hearing abnormality, Hydrocephalus, Ventricular septal defect, Death in infancy, Talipes, Talipes equinovarus, Strabismus, Scoliosis, Ptosis, Camptodactyly of finger, Neoplasm, Cleft palate, Congenital neuroblastoma, Limitation of joint mobility, Flexion contracture, Dandy-Walker malformation, Aplasia/Hypoplasia of the radius, Abnormality of the pinna, Abnormality of the hip bone
How does someone get tested for Aase-Smith syndrome I?
The initial testing for Aase-Smith syndrome I 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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