Acrocephalopolysyndactyly Type III

What is Acrocephalopolysyndactyly Type III?

Acrocephalopolysyndactyly Type III is a rare disease. It is also known as Acps Iii Acps With Leg Hypoplasia ACPSIII Acrocephalopolysyndactyly - type III Acrocephalopolysyndactyly type III Sakati-nyhan Syndrome.

Sakati et al., (1971) described a boy with a form of acrocephalopolysyndactyly. An unusual head shape was noted at birth. At 8 years his head was acrocephalic and premature fusion of all the cranial sutures was thought to have occurred. His scalp showed patches of alopecia with areas of atrophic skin above the ears. The ears were low-set, small and deformed with a very narrow external auditory canal on the right. The arms were short and the hands had proximally placed thumbs, symphalangism of the PIP joints of the 4th digits and a post-axial polydactyly of the right hand. The legs showed bilateral hypoplasia of the tibiae with seven toes on the right and six on the left. There was also syndactyly of the toes. Park et al., (1990) described a further convincing female case. The paternal age was 37 years and the authors suggested a new dominant mutation.

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* This information is courtesy of the L M D.

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What gene changes cause Acrocephalopolysyndactyly Type III?

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 - 101120 (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 Acrocephalopolysyndactyly Type III?

The typical symptoms of the syndrome are:
Short stature, Hypertelorism, Lower limb undergrowth, Hypoplasia of the maxilla, Hyperextensible skin, Hernia of the abdominal wall, Recurrent fractures, Synophrys, Reduced bone mineral density, Abnormality of the pinna, Abnormality of the metaphysis, Broad hallux, Broad thumb, Macrotia, Joint hypermobility, Abnormal cortical bone morphology, Low-set ears, Mandibular prognathia, Oxycephaly, Autosomal dominant inheritance, Small face, Short neck, Syndactyly, Preaxial hand polydactyly, Shallow orbits, Dental crowding, Downslanted palpebral fissures, Malar flattening, Craniosynostosis

How does someone get tested for Acrocephalopolysyndactyly Type III?

The initial testing for Acrocephalopolysyndactyly Type III 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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