Hypochondroplasia

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



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Narrow down the case reports



Total: 51 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(53.1%)		 24411048
 Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.
Taiwan J Obstet Gynecol. 2013;52(4):580-5.
Brachydactyly Relative macrocephaly
FGFR3
c|SUB|A|833|G;RS#:121913115 c|SUB|TAC||TGC p|SUB|Y|278|C;RS#:121913115
Achondroplasia Adult Bone and Bones DNA Mutational Analysis Differential Diagnosis Dwarfism Females Fetal Diseases Homo sapiens Limb Deformities, Congenital Lordosis Mutation Pregnancy Ultrasonography, Prenatal
2
(49.1%)		 23726269
 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.
Skeletal dysplasia Short femur
FGFR3
c|SUB|G|1024|T;RS#:587778775 rs587778775
Adult Amino Acid Sequence Bone and Bones China Dwarfism Females Fetus Homo sapiens Limb Deformities, Congenital Lordosis Missense Mutation Molecular Sequence Data Sequence Alignment Sequence Analysis, DNA
2
(49.1%)		 22302603
 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.
Skeletal dysplasia Short femur
Child, Preschool Homo sapiens Infant, Newborn Likelihood Functions Male Mutation Osteochondrodysplasias Ultrasonography, Prenatal
4
(45.9%)		 12784193
 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.
Delayed puberty Short femoral neck
FGFR3 GH1 IGF1 IGFBP3
c|SUB|C|1620|G;RS#:28933068 p|SUB|N|540|K;RS#:28933068
Child Delayed Puberty Diagnostic Errors Differential Diagnosis Homo sapiens Human Growth Hormone Inborn Errors of Metabolism Male Osteochondrodysplasias
5
(40.2%)		 10360393
 Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.
Am J Med Genet. 1999;84(5):401-5.
Narrow chest Frontal bossing
FGFR3
c|SUB|C|1620|A;RS#:28933068 p|SUB|G|380|R;RS#:28931614 p|SUB|N|540|K;RS#:28933068 rs28933068
Achondroplasia Adult Amniocentesis Bone and Bones DNA Mutational Analysis Females Fibroblast Growth Factor Fibroblast Growth Factor 3 Heterozygote Homo sapiens Male Mutation Osteochondrodysplasias Pregnancy Pregnancy Outcome Proto-Oncogene Proteins
5
(40.2%)		 10360392
 Achondroplasia-hypochondroplasia complex in a newborn infant.
Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.
Am J Med Genet. 1999;84(5):396-400.
Macrocephaly Frontal bossing
FGFR3
c|SUB|C|1620|G;RS#:28933068 c|SUB|G|1138|A;RS#:28931614 p|SUB|G|380|R;RS#:28931614 p|SUB|N|450|K;RS#:28933068 rs28933068
Achondroplasia Bone and Bones Females Fibroblast Growth Factor Receptors Homo sapiens Infant Mutation Osteochondrodysplasias Pregnancy Protein Tyrosine Kinase Ultrasonography, Prenatal
7
(39.0%)		 27485793
 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.
Macrocephaly
FGFR3
c|SUB|C|1620|A;RS#:28933068 p|SUB|N|540|K;RS#:28933068
Bone and Bones Child, Preschool Developmental Disabilities Differential Diagnosis Dwarfism Epilepsy, Temporal Lobe Females Homo sapiens Limb Deformities, Congenital Lordosis Phenotype Skin Abnormalities Temporal Lobe
7
(39.0%)		 21225389
 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.
Macrocephaly
FGFR3
p|SUB|N|540|K;RS#:28933068
Achondroplasia Body Weights and Measures Delayed Diagnosis Down Syndrome Females Homo sapiens Missense Mutation Mosaicism Sequence Analysis, DNA
7
(39.0%)		 16354969
 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.
Macrocephaly
DNA Mutational Analysis Dwarfism Females Fetus Homo sapiens Imaging, Three-Dimensional Osteochondrodysplasias Pregnancy X-Ray Computed Tomography
7
(39.0%)		 9842995
 Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
Angle B, Hersh JH, Christensen KM.
Clin Genet. 1998;54(5):417-20.
Cloverleaf skull
FGFR3
c|SUB|C|1620|A;RS#:28933068 rs28933068
Acrocephalosyndactylia Child Fibroblast Growth Factor Receptors Homo sapiens Male Osteochondrodysplasias Point Mutation Protein Tyrosine Kinase
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0011405 Childhood onset short-limb short stature Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Frequent (79-30%)
HP:0002644 Abnormality of pelvic girdle bone morphology Frequent (79-30%)
HP:0002823 Abnormality of femur morphology Frequent (79-30%)
HP:0002970 Genu varum Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002758 Osteoarthritis Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0003416 Spinal canal stenosis Occasional (29-5%)
HP:0006487 Bowing of the long bones Occasional (29-5%)
HP:0010535 Sleep apnea Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 22
HP:0004322 Short stature 10
HP:0000956 Acanthosis nigricans 6
HP:0000256 Macrocephaly 2
HP:0000842 Hyperinsulinemia 1
HP:0001258 Spastic paraplegia 1
HP:0001943 Hypoglycemia 1
HP:0002093 Respiratory insufficiency 1
HP:0002650 Scoliosis 1
HP:0002655 Spondyloepiphyseal dysplasia 1
HP:0002676 Cloverleaf skull 1
HP:0002762 Multiple exostoses 1
HP:0003026 Short long bone 1
HP:0005716 Lethal skeletal dysplasia 1
HP:0005758 Basilar impression 1
HP:0008480 Cervical spondylosis 1
HP:0010781 Skin dimple 1
HP:0011002 Osteopetrosis 1
HP:0012378 Fatigue 1
HP:0100255 Metaphyseal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR3 fibroblast growth factor receptor 3 2261