Hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


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PMID (PMCID)
29736252
(5933720)
 OTHER
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I, Kondo D, Oyama C, Yano T, Tamura H, Noguchi A, Takahashi T.
Hum Genome Var. 2018;5:1.
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH).
30160829
 MIXED_SAMPLE Infant, Newborn
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Chang IJ, Sun A, Bouchard ML, Kamps SE, Hale S, Done S, Goldberg MJ, Glass IA.
Am J Med Genet A. 2018;176(7):1675-1679.
Although homozygous biallelic mutations have been reported in patients with ACH in combination with hypochondroplasia or other dominant skeletal dysplasias, thus far, no cases of heterozygous biallelic pathogenic ACH-related variants in FGFR3 have been reported.
27485793
 FEMALE
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.
Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.
Brain Dev. 2017;39(1):67-71.
Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly.
28181399
 MALE Child
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Am J Med Genet A. 2017;173(4):1097-1101.
We describe the clinical history of an 8-year-old child with a skeletal dysplasia in the achondroplasia-hypochondroplasia spectrum, acanthosis nigricans, typical development, and the recently described p.Ser348Cys FGFR3 mutation.
25119967
 FEMALE Infant
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE.
Skeletal Radiol. 2015;44(3):441-5.
Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type.
24630288
 FEMALE Infant
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, Milani D.
Pediatr Neurol. 2014;50(4):427-30.
Hypochondroplasia is a rare skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, and limited extension of the elbow caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that plays a role in controlling nervous system development.
24839128
 FEMALE Adult
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.
Cesaretti C, Spaccini L, Rustico M, Parazzini C, Doneda C, Re TJ, Righini A.
Prenat Diagn. 2014;34(10):1015-7.
Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion.
23614116
(3630293)
 OTHER
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
Park KE, Kim SA, Kang MJ, Kim HS, Cho SI, Yoo KW, Kim SY, Lee HJ, Oh SK, Seong MW, Ku SY, Jun JK, Park SS, Choi YM, Moon SY.
Clin Exp Reprod Med. 2013;40(1):42-6.
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3).
22888019
 FEMALE Infant, Newborn
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.
Bober MB, Taylor M, Heinle R, Mackenzie W.
Am J Med Genet A. 2012;158A(9):2336-41.
Achondroplasia and hypochondroplasia are two of the most common forms of skeletal dysplasia.
23149434
(3537291)
 FEMALE
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
Korkmaz HA, Hazan F, Dizdarer C, Tukun A.
J Clin Res Pediatr Endocrinol. 2012;4(4):220-2.
Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP).
22302603
 MALE Infant, Newborn
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.
Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M.
Am J Med Genet A. 2012;158A(3):630-4.
Hypochondroplasia (HCH) is the mildest phenotype among fibroblast growth factor receptor 3 (FGFR3)-associated skeletal dysplasias.
21873755
 MIXED_SAMPLE Infant, Newborn
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia).
Schluter B, De Sousa G, Trowitzsch E, Andler W.
Georgian Med News. 2011;(196-197):63-72.
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia).
21910223
 FEMALE
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
Hatzaki A, Sifakis S, Apostolopoulou D, Bouzarelou D, Konstantinidou A, Kappou D, Sideris A, Tzortzis E, Athanassiadis A, Florentin L, Theodoropoulos P, Makatsoris C, Karadimas C, Velissariou V.
Am J Med Genet A. 2011;155A(10):2426-35.
Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN.
22038757
 MALE Infant, Newborn
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E, Perez-Carrizosa V, Garcia-Recuero I, Glucksman MJ, Wilkie AO, Garcia-Minaur S, Heath KE.
Am J Med Genet A. 2011;155A(12):3050-3.
Other FGFR3 mutations result in various skeletal dysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
21510009
 FEMALE Child
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
Berk DR, Boente Mdel C, Montanari D, Toloza MG, Primc NB, Prado MI, Bayliss SJ, Pique LM, Schrijver I.
Pediatr Dermatol. 2010;27(6):664-6.
Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia.
18583390
 MALE
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
Castro-Feijoo L, Loidi L, Vidal A, Parajes S, Roson E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Dominguez F, Pombo M.
Eur J Endocrinol. 2008;159(3):243-9.
Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3).
16575888
 MIXED_SAMPLE
Prenatal diagnosis of hypochondroplasia: report of two cases.
Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A.
Am J Med Genet A. 2006;140(9):998-1003.
Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH).
16354969
 FEMALE
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.
Bonnefoy O, Delbosc JM, Maugey-Laulom B, Lacombe D, Gaye D, Diard F.
Fetal Diagn Ther. 2006;21(1):18-21.
Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia.
12784193
 MALE Child
Pitfall in diagnosing growth hormone deficiency in a hypochondroplastic patient with a delayed puberty.
Meyer MF, Menken KU, Zimny S, Hellmich B, Schatz H.
Exp Clin Endocrinol Diabetes. 2003;111(3):177-81.
Hypochondroplasia is a clinically and genetically heterogeneous skeletal dysplasia with less obvious disproportion in childhood and a reduced pubertal growth spurt.
11055896
 MIXED_SAMPLE Infant, Newborn
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA.
Am J Hum Genet. 2000;67(6):1411-21.
Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.