Cardiospondylocarpofacial syndrome

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.



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
(31.0%)		 554423
 An unusual case of stapes fixation.
Kluyskens P, Mussche RA.
Acta Otorhinolaryngol Belg. 1979;33(6):922-6.
Hallux valgus
Adult Hearing Loss, Bilateral Homo sapiens Male Osteosclerosis Stapes Stapes Surgery Syndrome
2
(20.4%)		 29467388
 A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M.
Eur J Hum Genet. 2018;26(4):582-586.
Joint hypermobility
FLNA MAP3K7
c|SUB|A|737-7|G
Cardiovascular Diseases Child Connective Tissue Diseases Females Homo sapiens MAP Kinase Kinase Kinase Mutation RNA Splicing Syndrome
3
(4.0%)		 20186786
 Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V.
Am J Med Genet A. 2010;152A(3):539-46.
Nasal speech
FLNB NOG
rs886039234 rs886039235
Child Congenital Heart Defects Craniofacial Abnormalities Females Growth Disorders Homo sapiens Labyrinth Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0001653 Mitral regurgitation Very frequent (99-80%)
HP:0002705 High, narrow palate 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:0004279 Short palm Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0000692 Misalignment of teeth Frequent (79-30%)
HP:0006352 Failure of eruption of permanent teeth Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0008897 Postnatal growth retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MAP3K7 mitogen-activated protein kinase kinase kinase 7 6885