Von Voss-Cherstvoy syndrome

Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.



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Total: 7 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.6%)		 25899150
 Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
Antonini TN, Van Horn Kerne V, Axelrad ME, Karaviti LP, Schwartz DD.
Am J Med Genet A. 2015;167(7):1632-6.
Phocomelia
Brain Ectromelia Homo sapiens Magnetic Resonance Imaging Male Neurocognitive Disorders Neuropsychological Tests Phenotype Psychomotor Performance Thrombocytopenia Urogenital Abnormalities Visual Perception X-Ray Computed Tomography
1
(43.6%)		 9415466
 DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).
Bamforth JS, Lin CC.
Am J Med Genet. 1997;73(4):408-11.
Phocomelia
Adult Child Chromosome Deletion Chromosomes, Human, Pair 13 Ectromelia Face Females Fetal Growth Retardation Fingers Homo sapiens Intellectual Disability Male Mosaicism Pregnancy Seizures Syndrome
1
(43.6%)		 9128933
 VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community.
Lurie IW, Ferencz C.
Am J Med Genet. 1997;70(2):144-9.
Anal atresia Phocomelia
Brain Cleft Palate Congenital Heart Defects Ectromelia Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Phenotype Rectum X Chromosome
1
(43.6%)		 7810558
 von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW.
Am J Med Genet. 1994;52(3):272-8.
Thrombocytopenia Phocomelia
Ectromelia Females Genes, Lethal Genes, Recessive Homo sapiens Infant, Newborn Male Phenotype Syndrome Thrombocytopenia
5
(40.1%)		 7810557
 DK-phocomelia syndrome in a child with a long follow-up.
Urioste M, Paisan L, Martinez-Frias ML.
Am J Med Genet. 1994;52(3):269-71.
Dental malocclusion Scoliosis
Child Cryptorchidism Ectromelia Homo sapiens Male Syndrome Time Factors
6
(39.0%)		 15054846
 von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.
Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B.
Am J Med Genet A. 2004;126A(3):299-302.
Meningoencephalocele
Child Development Females Homo sapiens Infant Male Psychomotor Performance Syndrome Thrombocytopenia
7
(31.0%)		 8566956
 Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?
Urioste M, Lorda-Sanchez I, Blanco M, Buron E, Aparicio P, Martinez-Frias ML.
Hum Genet. 1996;97(2):214-7.
Polydactyly
Duodenum Females Gene Expression Regulation, Developmental Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Polydactyly Pregnancy Thymus Gland Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0009829 Phocomelia 3
HP:0001873 Thrombocytopenia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID