Microcephaly-cervical spine fusion anomalies syndrome

Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.



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

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0002176 Spinal cord compression Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002949 Fused cervical vertebrae Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0004312 Abnormal reticulocyte morphology Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010620 Malar prominence Very frequent (99-80%)
HP:0012371 Hyperplasia of midface Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000069 Abnormality of the ureter Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000889 Abnormality of the clavicle Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0006482 Abnormality of dental morphology 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