Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies

What is Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies?

Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Al Kaissi et al., (2005) reported an unusual case of a boy born to first cousin parents. Initially he was floppy, and was noted to have a dermoid cyst on his forehead, and a bilateral inguinal hernia. Motor development was slow and he walked at 24 months. Facially, there was hypertelorism, downslanting palpebral fissures, ptosis, a high narrow bridge, low set, large, flattened ears, and webbed neck. The scapulae were elevated, the clavicles were high, and there was generalized joint laxity. He had flat feet as well.
Radiologically, the skull vault and the base of the skull were thickened. C1 and C2 were fused and a CT 3D scan showed bilateral omovertebral bones. Sacral vertebrae showed sideways displacement. Mother had some features, including the sideways displacement of the sacral vertebrae. Father was clinically similar and a paternal first cousin whose parents were not related had similar clinical and X-ray findings. These findings included Sprengel anomaly, omoveretebrae, and fusion of C4, 5 and 6.

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* This information is courtesy of the L M D.

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What gene changes cause Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies?

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.

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 Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies?

The typical symptoms of the syndrome are:

How does someone get tested for Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies?

The initial testing for Al Kaissi (2005) - Sprengel Anomaly - Vertebral Body Anomalies 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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