Craniosynostosis-fibular aplasia syndrome

Craniosynostosis-fibular aplasia syndrome is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.



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

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0001883 Talipes Very frequent (99-80%)
HP:0002990 Fibular aplasia Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000632 Lacrimation abnormality Frequent (79-30%)
HP:0000766 Abnormality of the sternum Frequent (79-30%)
HP:0000960 Sacral dimple Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002645 Wormian bones Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0009804 Reduced number of teeth Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0100810 Pointed helix 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