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HCH
MCID: HYP042
MIFTS: 60
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Hypochondroplasia (HCH)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Hypochondroplasia:
Characteristics:Orphanet epidemiological data:58
hypochondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
genetic heterogeneity, some patients not linked to fgfr3 HPO:31GeneReviews:24
Penetrance Because of evidence that the height range in hypochondroplasia may overlap that of the unaffected population, individuals with hypochondroplasia may not be recognized as having a skeletal dysplasia unless an astute physician recognizes their disproportionate short stature. to date, however, all reported individuals with an fgfr3 pathogenic variant have had demonstrable radiographic changes compatible with hypochondroplasia or one of the other phenotypes known to be associated with pathogenic variants in this gene (see genetically related disorders).
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).
People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.
MalaCards based summary : Hypochondroplasia, also known as hch, is related to achondroplasia and skeletal dysplasias. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and skin, and related phenotypes are skeletal dysplasia and abnormal form of the vertebral bodies Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism. NIH Rare Diseases : 52 Hypochondroplasia is a form of skeletal disease characterized by very short stature . Hypochondroplasia is similar to achondroplasia , but the features tend to be milder. People with hypochondroplasia usually have very short stature, large head, accentuated lordosis , short arms and legs, and broad, short hands and feet. Other features include a limited range of motion in the elbows, lordosis , and bowed legs. Uncommon symptoms may include learning difficulties and convulsions. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion. Treatment is symptomatic and may include surgery (laminectomy and decompression ) to treat lumbar (low back) spinal stenosis (nerve compression caused by the the spine defects), physical therapy , and medication. Trials of growth hormone treatment in hypochondroplasia have shown good results in a few cases. OMIM : 56 Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971). (146000) KEGG : 36 Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth factor receptor (FGFR3) cause hypochondroplasia. UniProtKB/Swiss-Prot : 73 Hypochondroplasia: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. Wikipedia : 74 Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in... more...
GeneReviews:
NBK1477
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Human phenotypes related to Hypochondroplasia:58 31 (show all 28)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:146000GenomeRNAi Phenotypes related to Hypochondroplasia according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Hypochondroplasia:45 (show all 13)
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Drugs for Hypochondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: hypochondroplasia |
MalaCards organs/tissues related to Hypochondroplasia:40
Bone,
Temporal Lobe,
Skin,
Occipital Lobe,
Bone Marrow,
Brain,
Lung
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Articles related to Hypochondroplasia:(show top 50) (show all 300)
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Genes related to Hypochondroplasia (1 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypochondroplasia:6 (show all 34)
UniProtKB/Swiss-Prot genetic disease variations for Hypochondroplasia:73
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Search
GEO
for disease gene expression data for Hypochondroplasia.
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Pathways related to Hypochondroplasia according to KEGG:36
Pathways related to Hypochondroplasia according to GeneCards Suite gene sharing:(show all 48)
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Cellular components related to Hypochondroplasia according to GeneCards Suite gene sharing:
Biological processes related to Hypochondroplasia according to GeneCards Suite gene sharing:(show top 50) (show all 54)
Molecular functions related to Hypochondroplasia according to GeneCards Suite gene sharing:
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