• Thumbnail for Hypochondroplasia
    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
  • Thumbnail for Macrocephaly
    Hurler syndrome Hydrocephalus, nonsyndromic, autosomal recessive Hypochondroplasia Hypophosphatemic rickets and hyperparathyroidism Hypothyroidism, congenital...
    18 KB (1,723 words) - 11:31, 16 September 2024
  • Thumbnail for Dwarfism
    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
  • Thumbnail for Munchkin cat
    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
  • Thumbnail for Osteogenesis imperfecta
    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
  • Thumbnail for Paracrine signaling
    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...
    475 bytes (85 words) - 04:37, 28 May 2024
  • Hypoalphalipoproteinemia (Tangier disease) ABCA1 Hypochondrogenesis COL2A1 Hypochondroplasia FGFR3 (4p16.3) Immunodeficiency–centromeric instability–facial anomalies...
    43 KB (995 words) - 08:29, 11 November 2024
  • Thumbnail for Fibroblast growth factor receptor 3
    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
  • Thumbnail for Chromosome 4
    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
  • Thumbnail for Bundesverband Kleinwüchsige Menschen und ihre Familien
    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
  • Thumbnail for Judit Rolo Marichal
    (4 ft 4 in) Sport Country  Spain Sport Paralympic swimming Disability Hypochondroplasia Disability class S7 Club CD Midayu Tenerife Coached by Jose Luis Guadalupe...
    3 KB (43 words) - 22:49, 14 September 2024
  • 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
  • Thumbnail for Tiffany Thomas Kane
    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