Bowen-Conradi syndrome

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 484596
 The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.
Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB.
Am J Med Genet. 1979;3(3):269-79.
Micrognathia Prominent nose
Congenital Foot Deformity Females Homo sapiens Infant Infant, Newborn Joints Low Birth Weight Infant Male Microcephaly Micrognathism Syndrome
2
(39.0%)		 17975804
 A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME.
Am J Med Genet A. 2007;143A(23):2761-7.
Microcephaly
Brain Stem Females Homo sapiens Infant, Newborn Male Microcephaly Syndrome X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 20

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:0000448 Prominent nose Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001522 Death in infancy Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008850 Severe postnatal growth retardation Very frequent (99-80%)
HP:0008872 Feeding difficulties in infancy Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0001838 Rocker bottom foot Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0008846 Severe intrauterine growth retardation Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002101 Abnormal lung lobation Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000252 Microcephaly 2
HP:0000347 Micrognathia 1
HP:0001250 Seizures 1
HP:0002104 Apnea 1
HP:0025116 Fetal distress 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
EMG1 EMG1 N1-specific pseudouridine methyltransferase 10436