Omodysplasia

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.



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Narrow down the case reports



Total: 5 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(72.5%)		 2729357
 Omodysplasia.
Maroteaux P, Sauvegrain J, Chrispin A, Farriaux JP.
Am J Med Genet. 1989;32(3):371-5.
Long philtrum Short humerus
Adult Elbow Face Females Femur Growth Disorders Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias
2
(45.7%)		 24458798
 Long-term observation of a patient with dominant omodysplasia.
Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG.
Am J Med Genet A. 2014;164A(5):1234-8.
Short stature Rhizomelia
GPC6
Bone and Bones Chromosome Deletion Chromosomes, Human, X Facies Females Homo sapiens Middle Aged Osteochondrodysplasias Phenotype T-Box Domain Proteins
3
(21.2%)		 12497228
 Congenital distal humeral dysplasia: a case report.
Joseph B, Varghese RA.
Pediatr Radiol. 2003;33(1):7-10.
Skeletal dysplasia
Bone Diseases, Developmental Child, Preschool Congenital Foot Deformity Females Homo sapiens Radiographic Image Enhancement Syndrome
3
(21.2%)		 12210345
 Omodysplasia: an affected mother and son.
Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH.
Am J Med Genet. 2002;111(2):169-77.
Ambiguous genitalia Skeletal dysplasia
SON
Adult Congenital Hand Deformities Dwarfism Face Females Femur Growth Disorders Homo sapiens Infant, Newborn Male Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal
3
(21.2%)		 1867270
 Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.
Borochowitz Z, Barak M, Hershkowitz S.
Am J Med Genet. 1991;39(1):91-6.
Skeletal dysplasia
Bone Diseases, Developmental Dwarfism Facial Expression Females Homo sapiens Infant Infant, Newborn Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 1
HP:0004322 Short stature 1
HP:0008905 Rhizomelia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID