Hypochondroplasia

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

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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PMID (PMCID)
29190002
 MALE Child
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.
Paredes SEY, Segato RAB, Moreira LD, Moreira A, Serrano KVD, Rodrigues CT, Almeida LY, Leon JE.
Head Neck Pathol. 2018;12(4):604-609.
A 7-year-old boy, with previous hypochondroplasia diagnosis, was referred to our pediatric dentistry clinic presenting short stature, bone deformities and sinus tracts at deciduous teeth apex levels not related with trauma, restorations or dental caries.
30168875
 MIXED_SAMPLE Child
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
Yasuda M, Morimoto N, Shimizu A, Toyoshima T, Yokoyama Y, Ishikawa O.
J Dermatol. 2018;45(11):1357-1361.
Familial acanthosis nigricans caused by the mutation of the fibroblast growth factor receptor 3 (FGFR3) gene is characterized by short stature, hypochondroplasia and acanthosis nigricans.
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.
23726269
 FEMALE Adult
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J.
Clin Chim Acta. 2013;423:62-5.
Hypochondroplasia (HCH) is a mild, autosomal dominant human skeletal dysplasias characterized by short extremities, short stature and lumbar lordosis.
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).
21225389
 FEMALE
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
Dumic K, Barisic I, Potocki K, Sansovic I.
J Appl Genet. 2011;52(2):209-12.
She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed.
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.
We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia.
18000903
 FEMALE Child
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR.
Am J Med Genet A. 2007;143A(24):3144-9.
A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported.
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).
14755409
 MIXED_SAMPLE Infant, Newborn
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.
Kataoka S, Sawai H, Yamada H, Kanazawa N, Koyama K, Nishimura G, Morikawa M, Sakuragi N, Minakami H.
Prenat Diagn. 2004;24(1):45-9.
Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs.