CORNELIA DE LANGE SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: CDLS, X-LINKED
CORNELIA DE LANGE SYNDROME, X-LINKED
CDLS2
Number of Symptoms 37
OrphanetNr:
OMIM Id: 300590
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000294) Low anterior hairline 52 / 7739
2
(HPO:0000248) Brachycephaly 222 / 7739
3
(HPO:0000574) Thick eyebrow 96 / 7739
4
(HPO:0000319) Smooth philtrum 22106055 IBIS 72 / 7739
5
(HPO:0002714) Downturned corners of mouth 98 / 7739
6
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
(HPO:0000219) Thin upper lip vermilion 112 / 7739
8
(HPO:0000463) Anteverted nares 305 / 7739
9
(HPO:0000664) Synophrys 22106055 IBIS 112 / 7739
10
(HPO:0000341) Narrow forehead 96 / 7739
11
(HPO:0000252) Microcephaly 20358602 IBIS 832 / 7739
12
(HPO:0000218) High palate 356 / 7739
13
(HPO:0000426) Prominent nasal bridge 121 / 7739
14
(HPO:0000470) Short neck 345 / 7739
15
(HPO:0002553) Highly arched eyebrow 22106055 IBIS 92 / 7739
16
(HPO:0000347) Micrognathia 426 / 7739
17
(HPO:0000527) Long eyelashes 46 / 7739
18
(HPO:0000508) Ptosis 459 / 7739
19
(HPO:0001249) Intellectual disability 20358602 IBIS 1089 / 7739
20
(HPO:0001263) Global developmental delay 853 / 7739
21
(HPO:0100543) Cognitive impairment 230 / 7739
22
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
23
(HPO:0002465) Poor speech 31 / 7739
24
(HPO:0001156) Brachydactyly syndrome 180 / 7739
25
(HPO:0009623) Proximal placement of thumb 50 / 7739
26
(HPO:0200055) Small hand 71 / 7739
27
(HPO:0002996) Limited elbow movement 16 / 7739
28
(HPO:0001773) Short foot 86 / 7739
29
(HPO:0002020) Gastroesophageal reflux 101 / 7739
30
(HPO:0004322) Short stature 20358602 IBIS 1232 / 7739
31
(HPO:0001511) Intrauterine growth retardation 20358602 IBIS 358 / 7739
32
(HPO:0000965) Cutis marmorata 46 / 7739
33
(HPO:0001007) Hirsutism 91 / 7739
34
(HPO:0001639) Hypertrophic cardiomyopathy rare [HPO:skoehler] 137 / 7739
35
(HPO:0002119) Ventriculomegaly 253 / 7739
36
(HPO:0030084) Clinodactyly 90 / 7739
37
(HPO:0001419) X-linked recessive inheritance 189 / 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 4 to 6% of patients ...
Clinical Description OMIM Musio et al. (2006) reported 4 affected males with SMC1A mutations and similar CDLS symptoms: typical facial dysmorphisms, mental retardation in the moderate to severe range, and growth deficits with feeding problems in childhood. Their hands were not ...
Molecular genetics OMIM Musio et al. (2006) recruited 53 unrelated and 4 related individuals with a diagnosis of Cornelia de Lange syndrome, encompassing the entire spectrum of phenotypes. They found pathogenic NIPBL mutations in 24 of them, whereas the remaining 33 ...