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.

Phocomelia

Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


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PMID (PMCID)
25899150
 MALE
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.
DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies.
25899150
 MALE
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.
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
25899150
 MALE
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.
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
9415466
 MIXED_SAMPLE Child
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.
DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities.
9128933
 FEMALE Infant, Newborn
VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community.
Lurie IW, Ferencz C.
Am J Med Genet. 1997;70(2):144-9.
Baller-Gerold syndrome, Steinfeld syndrome, XK-aprosencephaly, and DK-phocomelia (von Voss-Cherstvoy) syndrome as well as Mendelian forms of VACTERL-hydrocephaly syndromes fit into this "cerebro-cardio-radio-reno-rectal community."