Paula and Bobby
Parents of Lillie
Acromesomelic Dysplasia, Maroteaux Type; AMDM
What is Acromesomelic Dysplasia, Maroteaux Type; AMDM?
Acromesomelic Dysplasia, Maroteaux Type; AMDM is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
* This information is courtesy of the L M D.
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What gene changes cause Acromesomelic Dysplasia, Maroteaux Type; AMDM?
The syndrome is inherited in the following inheritance pattern/s:
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 - 602875 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
GDF5 - 20q11.22
NPR2 - 9p13.3
What are the main symptoms of Acromesomelic Dysplasia, Maroteaux Type; AMDM?
The typical symptoms of the syndrome are:
Short metacarpal, Short metatarsal, Disproportionate short stature, Prominent forehead, Frontal bossing, Short nail, Thoracolumbar kyphosis, Lower thoracic kyphosis, Broad phalanx, Scoliosis, Radial bowing, Abnormal form of the vertebral bodies, Redundant skin on fingers, Lumbar hyperlordosis, Long hallux, Short nose, Thoracolumbar interpediculate narrowness, Limited elbow extension, Joint laxity, Joint hypermobility, Intellectual disability, Micromelia, Autosomal recessive inheritance, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Short stature, Short phalanx of finger, Short toe, Hypoplasia of the radius, Cone-shaped epiphyses of the phalanges of the hand, Sprengel anomaly, Brachydactyly, Dolichocephaly, Bowing of the long bones, Limitation of joint mobility, Flared metaphysis, Broad metatarsal, Broad metacarpals, Broad finger, Acromesomelia, Abnormality of skull size
How does someone get tested for Acromesomelic Dysplasia, Maroteaux Type; AMDM?
The initial testing for Acromesomelic Dysplasia, Maroteaux Type; AMDM 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.
What is FDNA Telehealth?
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