limbs are disproportionately short. When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs...

Langer Mesomelic Dysplasia (LMD) is a rare congenital disorder characterised by altered bone formation, which typically causes affected individuals to...

syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. The recessive form was previously known...

facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short...

genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity)...

syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing...

escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia. Madelung deformity of the wrist is caused by a growth disturbance...

In turn, short-limb short stature is classified into a) Rhizomelic, b) mesomelic and c) acromelic short stature. Rhizomelic short stature refers to skeletal...

Brachydactyly (Greek βραχύς 'short' plus δάκτυλος 'finger') is a medical term which literally means 'short finger'. The shortness is relative to the length...

chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia. Neuromuscular and Neurologic abnormalities: arthrogryposis...

subcategories of limb shortening include, rhizomelic (humerus and femur), mesomelic (radius, ulna, tibia and fibula) and acromelic (hands and feet). Anthropometric...

roots: location rhizomelic = root, i.e., bones of the upper arm or thigh mesomelic = middle, i.e., bones of the forearm or lower leg acromelic = end, i.e...

present at birth (natal teeth) Fingernail dysplasia Short-limbed dwarfism, mesomelic pattern Short ribs Cleft palate Malformation of the wrist bones (fusion...

dysostosis dyserythropoiesis Acral renal mandibular syndrome Acro coxo mesomelic dysplasia Acrocallosal syndrome, Schinzel type Acrocephalopolydactyly...

Brachymesomelia renal syndrome Brachymesophalangy 2 and 5 Brachymesophalangy mesomelic short limbs osseous anomalies Brachymesophalangy type 2 Brachymetapody...

"Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome". American Journal of Medical Genetics. 56 (2): 132–135. doi:10...

in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Gene dosage effects of extra copies of SHOX may be a cause...

in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly...

particularly in his research of bone disorders. He described a type of mesomelic dwarfism combined with deformed forearms, which was to become known as...

in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly...

FGFR3 Laing distal myopathy; 160500; MYH7 Langer mesomelic dysplasia; 249700; SHOX Langer mesomelic dysplasia; 249700; SHOXY Laron dwarfism; 262500; GHR...

Kang Suhp; Lee, Young-Ju; Park, Woong-Yang (September 2010). "A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster...

1074/jbc.M202146200. PMID 11896063. Song HR, Li QW, Oh CW, et al. (2004). "Mesomelic dwarfism in pseudoachondroplasia". Journal of Pediatric Orthopaedics B...