Cryptorchidism - arachnodactyly - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: Van Benthem-Driessen-Hanveld syndrome
Number of Symptoms 17
OrphanetNr: 1548
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
(HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
3
(HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
4
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
(HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
7
(HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
8
(HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
9
(HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
10
(HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
11
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
12
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
13
(HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
14
(HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
15
(HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
16
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
17
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: