Acral Dysostosis - Dyserythropoiesis

What is Acral Dysostosis - Dyserythropoiesis?

Acral Dysostosis - Dyserythropoiesis is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Le Merrer et al., (1995) reported two children with congenital dyserythropoietic anaemia, which is characterised by macrocytosis, refractory anaemia, ineffective erythropoiesis and mild hyperbilirubinaemia. The children had type I which is defined by abnormality of most erythroid cells on bone marrow examination with megaloblastic changes and the presence of large cells with incompletely divided nuclear segments and intranuclear chromatin bridges. The children had skeletal abnormalities including small hands and feet, syndactyly of toes 2-3 and 4-5, absent finger nails on digits 2 and 5, shortening of the terminal and middle phalanges, and duplication of the 4th metatarsals. There was also a possible mild epiphyseal dysplasia with small epiphyses, especially of the proximal femurs. The facies were said to be characterised by large eyes, hypertelorism, a wide nasal bridge, a high forehead, micrognathia, and a large mouth (although no photographs were provided). One case, a girl, developed depigmented patches of the skin and investigations for hypotonia showed features of a congenital muscular dystrophy on muscle biopsy.
Brichard et al., (1994) and Holmberg et al., (1978) may have reported similar cases. Bader-Meunier et al., (2005) reported 12 cases. Five had syndactyly, one had a SED-like picture, one had brachydactyly and one hemivertebrae.
Sabry et al., (1997) reported 3 sibs with congenital dyserythropoietic anaemia type 1 associated with skeletal anomalies. There was growth retardation, hypoplasia of some finger or toe nails, hallux valgus, soft tissue syndactyly of the 4th and 5th toes and duplication of the 4th metatarsals. There was also hypoplasia of middle phalanges and tarsal abnormalities. There was a very low mitotic index with peripheral blood lymphocyte culture, but no evidence of Fanconi anaemia.
Tamary et al., (1998) localised the gene for congenital dyserythropoietic anemia type 1 to 15q15.1-15.3

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* This information is courtesy of the L M D.

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What gene changes cause Acral Dysostosis - Dyserythropoiesis?

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 Acral Dysostosis - Dyserythropoiesis?

The typical symptoms of the syndrome are:

How does someone get tested for Acral Dysostosis - Dyserythropoiesis?

The initial testing for Acral Dysostosis - Dyserythropoiesis 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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