Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3)...
7 KB (549 words) - 14:29, 27 October 2023
Mutations in FGFR3 also cause achondroplasia related conditions including hypochondroplasia and SADDAN (severe achondroplasia with developmental delay and acanthosis...
47 KB (4,410 words) - 00:18, 19 October 2024
Hurler syndrome Hydrocephalus, nonsyndromic, autosomal recessive Hypochondroplasia Hypophosphatemic rickets and hyperparathyroidism Hypothyroidism, congenital...
18 KB (1,723 words) - 11:31, 16 September 2024
dysplasias may not be affected by dwarfism. In some cases of untreated hypochondroplasia, males grow up to 165 cm (5 feet 5 inches). Though that is short in...
43 KB (4,607 words) - 02:19, 1 November 2024
knock knee posture. The condition has sometimes been referred to as hypochondroplasia or pseudoachondroplasia. However, there appear to be two conditions...
24 KB (2,524 words) - 15:50, 25 November 2024
FGFR2: Antley–Bixler syndrome FGFR3: Achondroplasia Hypochondroplasia Thanatophoric dysplasia...
150 KB (15,385 words) - 12:29, 2 November 2024
short stature in which there is limb shortening as achondroplasia, hypochondroplasia, pseudoachondroplasia and multiple epiphyseal dysplasia. Short-trunk...
14 KB (1,683 words) - 23:27, 2 October 2024
growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism". American Journal of Medical Genetics...
46 KB (4,967 words) - 21:12, 7 July 2024
inhibitor in development for the treatment of achondroplasia and hypochondroplasia. Infigratinib targets the fibroblast growth factor receptors FGFR1...
13 KB (822 words) - 23:20, 15 August 2024
Hospital, in Vietnam Huichol language, an indigenous language of Mexico Hypochondroplasia, a developmental disorder Herbert Clark Hoover, President of the United...
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Hypoalphalipoproteinemia (Tangier disease) ABCA1 Hypochondrogenesis COL2A1 Hypochondroplasia FGFR3 (4p16.3) Immunodeficiency–centromeric instability–facial anomalies...
43 KB (995 words) - 08:29, 11 November 2024
inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia. FGFR-3 is a member of the fibroblast growth factor receptor family...
17 KB (1,845 words) - 01:41, 9 October 2024
Hypocalciuric hypercalcemia, familial Hypochondriasis Hypochondrogenesis Hypochondroplasia Hypocomplementemic urticarial vasculitis Hypodermyasis Hypodontia...
21 KB (1,717 words) - 04:04, 12 March 2024
bent arms and legs. These proportions point to achondroplasia and hypochondroplasia as the conditions responsible for the dwarfism of the individual....
18 KB (2,475 words) - 15:22, 1 August 2024
been associated with several conditions, including achondroplasia/hypochondroplasia, thanatophoric dwarfism, seborrheic keratosis, bladder cancer and...
96 KB (492 words) - 06:06, 25 November 2024
pseudoachondroplasa, diastrophic dysplasia, spondyloepiphyseal dysplasia and hypochondroplasia. The RGA can provide links to Red Book inserts for children with achondroplasia...
3 KB (374 words) - 04:40, 1 February 2021
Hereditary benign intraepithelial dyskeratosis Hirschprung's disease Hypochondroplasia Mast cell activation syndrome Methylmalonic acidemia Mucopolysaccharidosis...
31 KB (1,931 words) - 03:29, 25 August 2024
form of dwarfism, such as Achondroplasia, Diastrophic Dysplasia, Hypochondroplasia, Phosphate Diabetes, and Congenital Spondyloepiphyseal Dysplasia....
10 KB (1,235 words) - 15:36, 9 November 2024
(4 ft 4 in) Sport Country Spain Sport Paralympic swimming Disability Hypochondroplasia Disability class S7 Club CD Midayu Tenerife Coached by Jose Luis Guadalupe...
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were on an around-the-world sailing adventure. She was born with hypochondroplasia. Her family moved back to Canada when she was six months old, eventually...
15 KB (956 words) - 17:20, 15 November 2024
stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia". Human Genetics. 107 (2): 145–9. doi:10.1007/s004390000352. PMID 11030412...
11 KB (1,240 words) - 14:47, 2 November 2024
tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia". Nature Genetics. 10 (3): 357–359. doi:10.1038/ng0795-357. ISSN 1546-1718...
9 KB (828 words) - 03:24, 6 June 2024
dominant; 146200; CASR Hypocalciuric hypercalcemia, type I; 145980; CASR Hypochondroplasia; 146000; FGFR3 Hypoglycemia of infancy, leucine-sensitive; 240800;...
234 KB (18,877 words) - 06:16, 6 November 2024
final in the World Para Swimming Series in 2019. Turner was born with hypochondroplasia, making her of short stature. Nicole started swimming with her local...
10 KB (723 words) - 22:43, 6 November 2024
further two bronze medals. Thomas Kane was born on 9 August 2001 with hypochondroplasia, a developmental disorder causing short stature. She attended Ravenswood...
13 KB (993 words) - 19:54, 31 August 2024