Osteoglosphonic dysplasia

A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 12868472
 Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
Wakeling EL, Dattani MT, Bloch-Zupan A, Winter RM, Holder SE.
Clin Dysmorphol. 2003;12(2):105-7.
Osteoporosis
Child, Preschool Females Homo sapiens Infant Infant, Newborn Osteoporosis Septo-Optic Dysplasia Tracheal Stenosis
1
(21.2%)		 7422392
 Osteoglophonic dwarfism.
Beighton P, Cremin BJ, Kozlowski K.
Pediatr Radiol. 1980;10(1):46-50.
Skeletal dysplasia
rs121909634
Bone Diseases, Developmental Child Child, Preschool Dwarfism Females Homo sapiens Mandibular Diseases
1
(21.2%)		 6606709
 Osteoglophonic dwarfism in two generations.
Kelley RI, Borns PF, Nichols D, Zackai EH.
J Med Genet. 1983;20(6):436-40.
Skeletal dysplasia
SON
Adult Craniofacial Dysostosis Dwarfism Genes, Dominant Hereditary Multiple Exostoses Homo sapiens Infant Male
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0006283 Multiple unerupted teeth Very frequent (99-80%)
HP:0009804 Reduced number of teeth Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000889 Abnormality of the clavicle Frequent (79-30%)
HP:0001531 Failure to thrive in infancy Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0008905 Rhizomelia Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0011849 Abnormal bone ossification Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR1 fibroblast growth factor receptor 1 2260