Mesomelic dysplasia, Kantaputra type

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.



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Narrow down the case reports



Total: 4 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.7%)		 15264287
 Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.
Kwee ML, van de Sluijs JA, van Vugt JM, Wijnaendts LC, Gille JJ.
Am J Med Genet A. 2004;128A(4):404-9.
Skeletal dysplasia Broad ulna
SHOX
Adult Bone Diseases, Developmental Child Child, Preschool DNA Mutational Analysis Females Fibula Gene Deletion Gestational Age Haplotypes Homeodomain Proteins Homo sapiens Male Point Mutation Pregnancy Short Stature Homeobox Protein Tarsal Bones
2
(28.5%)		 15211647
 Kantaputra mesomelic dysplasia: a second reported family.
Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C.
Am J Med Genet A. 2004;128A(1):6-11.
Talipes equinovarus Skeletal dysplasia
HOXD11
Ankle Body Height Bone Diseases, Developmental Chromosomes, Human, Pair 2 DNA Mutational Analysis Females Homo sapiens Male Middle Aged Phenotype Syndrome Tarsal Bones
3
(4.0%)		 23456534
 A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.
Lim BC, Min BJ, Park WY, Oh SK, Woo MJ, Choi JS, Kim KJ, Hwang YS, Chae JH.
J Child Neurol. 2014;29(2):260-4.
Global developmental delay
HOXD@
Brain Chromosomes, Human, Pair 2 Developmental Disabilities Electroencephalography Fluorescent in Situ Hybridization Homo sapiens Hypoplastic Left Heart Syndrome Infant Male Phenotype Trisomy West Syndrome
3
(4.0%)		 19471182
 A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.
Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N.
J Pediatr Orthop B. 2008;17(5):271-6.
Short stature
Bone Diseases, Developmental Child, Preschool Chromosomes, Human, Pair 2 DNA Mutational Analysis Follow-Up Studies Genetic Predisposition to Disease Homo sapiens Limb Deformities, Congenital Male Syndrome Tarsal Bones
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0002991 Abnormality of fibula morphology Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0003028 Abnormality of the ankles Very frequent (99-80%)
HP:0003063 Abnormality of the humerus Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005009 Dumbbell-shaped humerus Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)
HP:0009465 Ulnar deviation of finger Frequent (79-30%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002967 Cubitus valgus Occasional (29-5%)
HP:0003422 Vertebral segmentation defect Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 2


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID