This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

Physicians seeking assistance in making a diagnosis of AMDM or other forms of skeletal dysplasia are also welcome to contact us. Boston Children's Hospital has been named the #1 children's hospital in the nation by U.S. [childrenshospital.org]

NORD recommends that affected individuals seek the advice or counsel of their own personal physicians. It is possible that the title of this topic is not the name you selected. [metrohealth.net]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

However, linkage analyses in four consanguineous AMDM families of Turkish and Lebanese ancestry supported the mapping of a gene for typical AMDM to chromosome 9p13-q12 (Zmax 3.27 and Zmax 3.23 at θ 0 at loci D9S1878 and D9S1817 respectively). [jmg.bmj.com]

forearms and lower legs as well as small hands and feet. [merriam-webster.com]

Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower (distal) legs. These findings are apparent during the first years of life. [healthetreatment.com]

The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. [diseaseinfosearch.org]

As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typically become apparent during the first years of life. [rarediseases.org]

Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. [metrohealth.net]

The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life. Resources MAGIC Foundation 6645 W. [metrohealth.net]

The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life. [rarediseases.org]

Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]

The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. [jmg.bmj.com]

The pelvis has a typical configuration, and the cranium may demonstrate frontal bossing, with a normal head circumference, hypoplastic maxilla and malocclusion. [journalijar.com]

bossing ; Hypoplasia of the radius ; Joint laxity ; Limited elbow extension ; Long hallux ; Lower thoracic kyphosis ; Lumbar hyperlordosis ; Ovoid vertebral bodies ; Prominent forehead ; Radial bowing ; Redundant skin on fingers ; Short metacarpal ; [mousephenotype.org]

Such features may include a relatively enlarged head (macrocephaly), unusually prominent forehead (frontal bossing), and pronounced back portion of the head (occipital prominence); a slightly flattened midface; and/or an abnormally small, pug nose. [rarediseases.org]