CORNELIA DE LANGE SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: CDLS5
Number of Symptoms 39
OrphanetNr:
OMIM Id: 300882
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000506) Telecanthus 156 / 7739
2
(HPO:0002553) Highly arched eyebrow 5/5 [HPO:probinson] 22885700 IBIS 92 / 7739
3
(HPO:0000218) High palate 3/5 [HPO:probinson] 22885700 IBIS 356 / 7739
4
(HPO:0005280) Depressed nasal bridge 381 / 7739
5
(HPO:0000455) Broad nasal tip 67 / 7739
6
(HPO:0000664) Synophrys 5/5 [HPO:probinson] 22885700 IBIS 112 / 7739
7
(HPO:0000175) Cleft palate 349 / 7739
8
(HPO:0000426) Prominent nasal bridge 4/5 [HPO:probinson] 22885700 IBIS 121 / 7739
9
(HPO:0000278) Retrognathia 100 / 7739
10
(HPO:0002714) Downturned corners of mouth 4/5 [HPO:probinson] 22885700 IBIS 98 / 7739
11
(HPO:0000527) Long eyelashes 5/5 [HPO:probinson] 22885700 IBIS 46 / 7739
12
(HPO:0000248) Brachycephaly 3/5 [HPO:probinson] 22885700 IBIS 222 / 7739
13
(HPO:0000687) Widely spaced teeth 40 / 7739
14
(HPO:0000233) Thin vermilion border 4/5 [HPO:probinson] 22885700 IBIS 124 / 7739
15
(HPO:0000470) Short neck 345 / 7739
16
(HPO:0000316) Hypertelorism 644 / 7739
17
(HPO:0000347) Micrognathia 4/5 [HPO:probinson] 22885700 IBIS 426 / 7739
18
(HPO:0000343) Long philtrum 4/5 [HPO:probinson] 22885700 IBIS 262 / 7739
19
(HPO:0000294) Low anterior hairline 5/5 [HPO:probinson] 22885700 IBIS 52 / 7739
20
(HPO:0000508) Ptosis 2/5 [HPO:probinson] 22885700 IBIS 459 / 7739
21
(HPO:0000545) Myopia 286 / 7739
22
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
23
(HPO:0001249) Intellectual disability 1089 / 7739
24
(HPO:0001263) Global developmental delay 5/5 [HPO:probinson] 22885700 IBIS 853 / 7739
25
(HPO:0001250) Seizures 22885700 IBIS 1245 / 7739
26
(HPO:0009623) Proximal placement of thumb 5/5 [HPO:probinson] 22885700 IBIS 50 / 7739
27
(HPO:0001377) Limited elbow extension 4/5 [HPO:probinson] 22885700 IBIS 38 / 7739
28
(HPO:0001773) Short foot 3/5 [HPO:probinson] 22885700 IBIS 86 / 7739
29
(HPO:0001770) Toe syndactyly 149 / 7739
30
(HPO:0004209) Clinodactyly of the 5th finger 5/5 [HPO:probinson] 22885700 IBIS 288 / 7739
31
(HPO:0200055) Small hand 2/5 [HPO:probinson] 22885700 IBIS 71 / 7739
32
(HPO:0002020) Gastroesophageal reflux 101 / 7739
33
(HPO:0008872) Feeding difficulties in infancy 2/4 [HPO:probinson] 22885700 IBIS 153 / 7739
34
(HPO:0008897) Postnatal growth retardation 113 / 7739
35
(HPO:0000965) Cutis marmorata 2/5 [HPO:probinson] 22885700 IBIS 46 / 7739
36
(HPO:0001007) Hirsutism 5/5 [HPO:probinson] 22885700 IBIS 91 / 7739
37
(HPO:0002119) Ventriculomegaly 3/5 [HPO:probinson] 22885700 IBIS 253 / 7739
38
(HPO:0001417) X-linked inheritance 173 / 7739
39
(HPO:0040082) Happy demeanor 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations ...
Molecular genetics OMIM Deardorff et al. (2012) screened 154 individuals with Cornelia de Lange syndrome for mutations in the HDAC8 gene. HDAC8 encodes the vertebrate SMC3 (606062) deacetylase. These individuals were negative for mutations in NIPBL, SMC1A, and SMC3, as well ...