CORNELIA DE LANGE SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: CDLS4
Number of Symptoms 30
OrphanetNr:
OMIM Id: 614701
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000431) Wide nasal bridge 290 / 7739
2
(HPO:0000574) Thick eyebrow 96 / 7739
3
(HPO:0000343) Long philtrum 262 / 7739
4
(HPO:0000319) Smooth philtrum 72 / 7739
5
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
(HPO:0000252) Microcephaly 832 / 7739
7
(HPO:0000219) Thin upper lip vermilion 112 / 7739
8
(HPO:0002553) Highly arched eyebrow 92 / 7739
9
(HPO:0000664) Synophrys 112 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0008428) Vertebral clefting rare [HPO:skoehler] 4 / 7739
12
(HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
13
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
14
(HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
15
(HPO:0100774) Hyperostosis 17 / 7739
16
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
17
(HPO:0009700) Finger symphalangism 55 / 7739
18
(HPO:0001770) Toe syndactyly 149 / 7739
19
(HPO:0003872) Humeral exostoses 1 / 7739
20
(HPO:0002937) Hemivertebrae rare [HPO:skoehler] 41 / 7739
21
(HPO:0100777) Exostoses 32 / 7739
22
(HPO:0002020) Gastroesophageal reflux rare [HPO:skoehler] 101 / 7739
23
(HPO:0004322) Short stature 1232 / 7739
24
(HPO:0000965) Cutis marmorata rare [HPO:skoehler] 46 / 7739
25
(OMIM) Radioulnar abnormalities (in some patients) 1 / 7739
26
(OMIM) Cognitive delay, mild to severe 1 / 7739
27
(OMIM) Long lashes 1 / 7739
28
(HPO:0003812) Phenotypic variability 129 / 7739
29
(MedDRA:10072883) Brachydactyly 153 / 7739
30
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Deardorff et al. (2012) reported 2 unrelated patients, a boy and a girl, with a phenotype suggestive of Cornelia de Lange syndrome. Both had microcephaly and a characteristic facial appearance, with thick, bushy, arched eyebrows, synophrys, long or ...
Molecular genetics OMIM In 2 unrelated patients with Cornelia de Lange syndrome-4, Deardorff et al. (2012) identified different de novo heterozygous mutations in the RAD21 gene (P376R; 606462.0001 and C585R; 606462.0002). These mutations were identified by screening of the RAD21 gene ...