Von Voss-Cherstvoy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PHOCOMELIA, THROMBOCYTOPENIA, ENCEPHALOCELE, UROGENITAL MALFORMATIONS
VON VOSS-CHERSTVOY SYNDROME
DK phocomelia syndrome
Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
Number of Symptoms 16
OrphanetNr: 3439
OMIM Id: 223340
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0000119) Abnormality of the genitourinary system 34 / 7739
3
 (HPO:0000077) Abnormality of the kidney Frequent [Orphanet] 73 / 7739
4
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
5
 (HPO:0002084) Encephalocele 70 / 7739
6
 (HPO:0009829) Phocomelia 20 / 7739
7
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
8
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
9
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
10
 (HPO:0002435) Meningocele Very frequent [Orphanet] 23 / 7739
11
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
12
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
13
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cherstvoy et al. (1980) referred to a case reported by workers in Kiel and described an apparently identical case of a syndrome of phocomelia, thrombocytopenia, encephalocele and urogenital abnormalities. They called it the 'DK phocomelia syndrome' from the ...
Population genetics OMIM Bermejo-Sanchez et al. (2011) reported epidemiologic data on phocomelia from 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 ...