Craniometadiaphyseal dysplasia, wormian bone type

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.2%)		 9605592
 Craniometadiaphyseal dysplasia, wormian bone type.
Santolaya JM, Hall CM, Garcia-Minaur S, Delgado A.
Am J Med Genet. 1998;77(3):241-5.
Wormian bones Prominent forehead
Bone and Bones Child, Preschool Craniofacial Abnormalities Genes, Recessive Homo sapiens Leg Bones Male
2
(39.0%)		 2000503
 Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.
Langer LO Jr, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL.
Skeletal Radiol. 1991;20(1):37-41.
Wormian bones
Bone Diseases, Developmental Child Females Genes, Recessive Homo sapiens Male
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000242 Parietal bossing Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000260 Wide anterior fontanel Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000885 Broad ribs Very frequent (99-80%)
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0000940 Abnormal diaphysis morphology Very frequent (99-80%)
HP:0001248 Short tubular bones of the hand Very frequent (99-80%)
HP:0001760 Abnormality of the foot Very frequent (99-80%)
HP:0002212 Curly hair Very frequent (99-80%)
HP:0002645 Wormian bones Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0002703 Abnormality of skull ossification Very frequent (99-80%)
HP:0002753 Thin bony cortex Very frequent (99-80%)
HP:0005446 Obtuse angle of mandible Very frequent (99-80%)
HP:0006391 Overtubulated long bones Very frequent (99-80%)
HP:0006429 Broad femoral neck Very frequent (99-80%)
HP:0008438 Vertebral arch anomaly Very frequent (99-80%)
HP:0009911 Abnormal temporal bone morphology Very frequent (99-80%)
HP:0010539 Thin calvarium Very frequent (99-80%)
HP:0011001 Increased bone mineral density Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)


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