Grant syndrome

Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 3742858
 The Grant syndrome. Persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia--an autosomal dominant trait.
Maclean JR, Lowry RB, Wood BJ.
Clin Genet. 1986;29(6):523-9.
Wormian bones
Adult Child, Preschool Females Genes, Dominant Homo sapiens Leg Male Mandible Osteogenesis Imperfecta Syndrome Terminology as Topic
2
(4.0%)		 8291526
 Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia.
Moore LA, Moore CA, Smith JA, Weaver DD.
Am J Med Genet. 1993;47(7):1072-7.
Hypertelorism
Bone Diseases, Developmental Child Congenital Hand Deformities Females Femur Homo sapiens Infant Leg Male
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000592 Blue sclerae Very frequent (99-80%)
HP:0001373 Joint dislocation Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002645 Wormian bones Very frequent (99-80%)
HP:0003103 Abnormal cortical bone morphology Very frequent (99-80%)
HP:0004331 Decreased skull ossification Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000912 Sprengel anomaly Frequent (79-30%)
HP:0001024 Skin dimple over apex of long bone angulation Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0002644 Abnormality of pelvic girdle bone morphology Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0011912 Abnormality of the glenoid fossa Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0100729 Large face Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID