Paula and Bobby
Parents of Lillie
Acropectorovertebral Dysplasia; ACRPV
What is Acropectorovertebral Dysplasia; ACRPV?
Acropectorovertebral Dysplasia; ACRPV is a rare disease. It is also known as F Syndrome F-syndrome.
There has been only one documentation of this condition, the F being the first letter of the family name (Grosse et al., 1969). Seven members were affected in three generations. The hand malformations are distinctive in that the thumbs are broad, short and duplicated distally. There might be a web between the thumb and the index finger containing an extra bone derived from the thumb, which meets a bony projection from the index finger. Alternatively the distal phalanges of the index finger and thumb are hypoplastic and fused. The big toe and the adjacent 2nd toe might be fused and have a single broad metatarsal. A bony bridge extends from the common metatarsal to the third toe. Post-axial polydactyly and further variable webbing of the toes are other features, as are pectus excavatum and spina bifida occulta.
Camera et al., (1995) reported a father and daughter with the condition. The family originally described by Grosse et al., (1969) has been mapped to 2q36 by Thiele et al., (2004). Note that the acropectoral syndrome reported by Dundar (see under Dundar - 2001) was mapped to 7q36, and is thus different.
* This information is courtesy of the L M D.
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What gene changes cause Acropectorovertebral Dysplasia; ACRPV?
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 - 102510 (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 Acropectorovertebral Dysplasia; ACRPV?
The typical symptoms of the syndrome are:
Cleft palate, Finger syndactyly, Triphalangeal thumb, Abnormality of the thorax, Abnormal vertebral morphology, Broad thumb, Capitate-hamate fusion, Toe syndactyly, Autosomal dominant inheritance, Tarsal synostosis, Spina bifida occulta at L5, Spina bifida occulta at S1, Synostosis of carpal bones, Skeletal dysplasia, Camptodactyly of finger, Radial deviation of the 2nd finger, Pectus excavatum, Short thumb, Bifid distal phalanx of the thumb, Short distal phalanx of finger, Cognitive impairment
How does someone get tested for Acropectorovertebral Dysplasia; ACRPV?
The initial testing for Acropectorovertebral Dysplasia; ACRPV 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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