Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses <i>etc.</i>).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0001762 Talipes equinovarus Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0003311 Hypoplasia of the odontoid process Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004582 Irregularity of vertebral bodies Very frequent (99-80%)
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand Very frequent (99-80%)
HP:0011833 Overhanging nasal tip Very frequent (99-80%)
HP:0200055 Small hand 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: 1

Gene Symbol Gene Name Entrez Gene ID
COG4 component of oligomeric golgi complex 4 25839