Microcephaly-cardiac defect-lung malsegmentation syndrome

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0002101 Abnormal lung lobation Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000104 Renal agenesis Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000383 Abnormality of periauricular region Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001660 Truncus arteriosus Frequent (79-30%)
HP:0001679 Abnormal aortic morphology Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0004467 Preauricular pit Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)
HP:0009882 Short distal phalanx of finger 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