Arachnodactyly - intellectual deficit - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: De Die-Smulders-Vles-Fryns syndrome
Number of Symptoms 22
OrphanetNr: 1130
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
2
(HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
3
(HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
4
(HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
5
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
6
(HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
7
(HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
8
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
9
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
10
(HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
11
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
12
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
13
(HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
14
(HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
15
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
16
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
17
(HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
18
(HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
19
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
(HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
21
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
(HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: