Paula and Bobby
Parents of Lillie
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
What is Chondrodysplasia Punctata, Brachytelephalangic, Autosomal?
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal is a rare disease. It is also known as Brachytelephalangic Chondrodysplasia Punctata Brachytelephalangic Chondrodysplasia Punctata; Bcdp.
Maroteaux (1989) described four unrelated males with a form of chondrodysplasia punctata (CPD) with symmetric limbs and hypoplasia of the distal phalanges. The face resembled that seen in Binder syndrome. The author postulated that the disorder was due to a new mutation on Xp in males. Sheffield et al., (1976) may have described the same condition.
Some cases are difficult to classify, for example the 7-year-old girl with a mild form of chondrodysplasia punctata with marked midface hypoplasia and conductive deafness reported by Say et al., (1973), or the case of chondrodysplasia punctata reported by Norman et al., (1992), but they may fall into this group. Wessels et al., (2003) reported a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia. As the authors say, this case is difficult to classify as well.
Peter et al., (1997) described a female with convincing features of the condition.
Elcioglu and Hall (1998) reported male and female sibs born to a mother with systemic lupus erythematosus, who had features of either brachytelephalangic chondrodysplasia punctata or the metacarpal type of brachytelephalangic chondrodysplasia. They noted that the mother of the male case reported by Mansour et al., (1994) also had a diagnosis of SLE postpartum. Austin-Ward et al., (1998) also reported a newborn infant with chondrodysplasia punctata whose mother had systemic lupus erythematosus. This child had more annular plaques around the lateral side of the orbit. These were punctate depressions of the skin.
Eash et al., (2003) reported a male infant with features of the condition and cervical spine stenosis with resultant quadriplegia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption, raising the question of vitamin K deficiency. Another case reported by Jaillet et al., (2005) was born to a mother who had biliary lithiasis during pregnancy and was thought to be vitamin K deficient. Another child with maternal Vitamin K deficiency was reported by Alessandri et al., (2010). Spinal cord compression is a serious complication and 4 new cases were reported by Garnier et al., (2007).
Note the case reported by Casarin et al., (2009) with tracheal calcification but no epiphyseal stippling. His maternal grandfather was clinically and radiographically normal, but carried the same ARSE mutation.
A male with a hemizygous mutation reported by Meyer et al., (2013) had diaphragmatic paralysis an subluxation of C1 and C2. Facially, he resembled Binder syndrome.
NOTE - some authors suggest that this is not different from 'chondrodysplasia punctata - X-linked recessive' - see elsewhere and Nino et al., (2008) found ARSE mutations as found in CDPX1 (X-linked chondrodysplasiapunctata - recessive) in 7/11 patients who met the criteria for brachytelephalangic chondrodysplasia punctata.
* This information is courtesy of the L M D.
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What gene changes cause Chondrodysplasia Punctata, Brachytelephalangic, Autosomal?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
X-Linked Dominant - With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosome males have. Males tend to have more severe symptoms than females.
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 - 602497 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ARSE - Xp22.33
What are the main symptoms of Chondrodysplasia Punctata, Brachytelephalangic, Autosomal?
The typical symptoms of the syndrome are:
How does someone get tested for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal?
The initial testing for Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 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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