Acromesomelic Dysplasia - Genital Anomalies

What is Acromesomelic Dysplasia - Genital Anomalies?

Acromesomelic Dysplasia - Genital Anomalies is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

A 16-year-old girl, the product of a consanguineous mating, presented with disproportionate short stature due to severe acromesomelic limb shortening. Her fingers were very short and radially deviated. Phalanges were hypoplastic and the distal phalanges of the middle fingers appeared bifid. The 1st metacarpals were rudimentary and the proximal phalages of the thumbs were missing. Several carpal bones were abnormal in shape and fused. The ulna was short and the radius was broad. There were bilateral small, clubbed feet and the toes were short. The tibiae were deformed and had wide proximal metaphyses. The fibulae were aplastic and the tarsal bones partly fused. The metatarsals were normal. The patient had never menstruated and on ultrasound examination the ovaries could not be seen and the uterus was hypoplastic. Endocrine studies confirmed hypergonadotrophic hypogonadism. A study of BMPR1B (the gene coding for bone morphogenetic protein receptor 1B) showed a homozygous mutation. This gene in the heterozygous state causes 'brachydactyly type A2' - see elsewhere

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* This information is courtesy of the L M D.

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What gene changes cause Acromesomelic Dysplasia - Genital 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.

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 Acromesomelic Dysplasia - Genital Anomalies?

The typical symptoms of the syndrome are:

How does someone get tested for Acromesomelic Dysplasia - Genital Anomalies?

The initial testing for Acromesomelic Dysplasia - Genital 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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