Mesomelia (redirect from Mesomelic dwarfism)
limbs are disproportionately short. When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs...
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Langer Mesomelic Dysplasia (LMD) is a rare congenital disorder characterised by altered bone formation, which typically causes affected individuals to...
5 KB (465 words) - 00:10, 2 July 2024
facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short...
28 KB (2,469 words) - 04:35, 13 June 2024
Robinow syndrome (redirect from Mesomelic dwarfism-small genitalia syndrome)
syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. The recessive form was previously known...
15 KB (1,486 words) - 03:08, 11 July 2024
In turn, short-limb short stature is classified into a) Rhizomelic, b) mesomelic and c) acromelic short stature. Rhizomelic short stature refers to skeletal...
2 KB (225 words) - 03:09, 3 December 2023
syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing...
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genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity)...
4 KB (304 words) - 05:53, 12 June 2024
chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia. Neuromuscular and Neurologic abnormalities: arthrogryposis...
46 KB (5,577 words) - 12:12, 15 August 2024
escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia. Madelung deformity of the wrist is caused by a growth disturbance...
12 KB (1,488 words) - 14:22, 30 July 2024
subcategories of limb shortening include, rhizomelic (humerus and femur), mesomelic (radius, ulna, tibia and fibula) and acromelic (hands and feet). Anthropometric...
14 KB (1,683 words) - 16:00, 3 September 2024
Brachydactyly (from Greek βραχύς (brachus) 'short' and δάκτυλος (daktulos) 'finger') is a medical term denoting the presence of abnormally short digits...
14 KB (1,135 words) - 23:10, 2 September 2024
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...
43 KB (4,607 words) - 21:01, 10 September 2024
present at birth (natal teeth) Fingernail dysplasia Short-limbed dwarfism, mesomelic pattern Short ribs Cleft palate Malformation of the wrist bones (fusion...
10 KB (966 words) - 06:13, 16 November 2023
"Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome". American Journal of Medical Genetics. 56 (2): 132–135. doi:10...
3 KB (181 words) - 22:29, 6 November 2023
dysostosis dyserythropoiesis Acral renal mandibular syndrome Acro coxo mesomelic dysplasia Acrocallosal syndrome, Schinzel type Acrocephalopolydactyly...
24 KB (1,972 words) - 21:28, 16 August 2024
Brachymesomelia renal syndrome Brachymesophalangy 2 and 5 Brachymesophalangy mesomelic short limbs osseous anomalies Brachymesophalangy type 2 Brachymetapody...
12 KB (1,049 words) - 21:37, 16 August 2024
in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly...
13 KB (1,410 words) - 19:27, 27 November 2023
in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Gene dosage effects of extra copies of SHOX may be a cause...
11 KB (1,240 words) - 08:49, 4 January 2024
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...
5 KB (367 words) - 09:33, 17 December 2023
particularly in his research of bone disorders. He described a type of mesomelic dwarfism combined with deformed forearms, which was to become known as...
2 KB (222 words) - 13:17, 17 December 2023
in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly...
49 KB (5,404 words) - 03:51, 15 July 2024
FGFR3 Laing distal myopathy; 160500; MYH7 Langer mesomelic dysplasia; 249700; SHOX Langer mesomelic dysplasia; 249700; SHOXY Laron dwarfism; 262500; GHR...
234 KB (18,877 words) - 15:43, 9 May 2024
1074/jbc.M202146200. PMID 11896063. Song HR, Li QW, Oh CW, et al. (2004). "Mesomelic dwarfism in pseudoachondroplasia". Journal of Pediatric Orthopaedics B...
5 KB (650 words) - 05:09, 5 April 2024