CORNELIA DE LANGE SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: CDLS3
Number of Symptoms 18
OrphanetNr:
OMIM Id: 610759
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:0000426) Prominent nasal bridge 17273969 IBIS 121 / 7739
2
(HPO:0000218) High palate 17273969 IBIS 356 / 7739
3
(HPO:0002553) Highly arched eyebrow 17273969 IBIS 92 / 7739
4
(HPO:0000664) Synophrys 17273969 IBIS 112 / 7739
5
(HPO:0000233) Thin vermilion border 17273969 IBIS 124 / 7739
6
(HPO:0000527) Long eyelashes 17273969 IBIS 46 / 7739
7
(HPO:0000545) Myopia 17273969 IBIS 286 / 7739
8
(HPO:0001263) Global developmental delay 17273969 IBIS 853 / 7739
9
(HPO:0001249) Intellectual disability 17273969 IBIS 1089 / 7739
10
(HPO:0002996) Limited elbow movement 17273969 IBIS 16 / 7739
11
(HPO:0004209) Clinodactyly of the 5th finger 17273969 IBIS 288 / 7739
12
(HPO:0200055) Small hand 17273969 IBIS 71 / 7739
13
(HPO:0009623) Proximal placement of thumb 17273969 IBIS 50 / 7739
14
(HPO:0001773) Short foot 17273969 IBIS 86 / 7739
15
(HPO:0008872) Feeding difficulties in infancy 17273969 IBIS 153 / 7739
16
(HPO:0002020) Gastroesophageal reflux 17273969 IBIS 101 / 7739
17
(HPO:0004322) Short stature 17273969 IBIS 1232 / 7739
18
(HPO:0001007) Hirsutism 17273969 IBIS 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Deardorff et al. (2007) identified a patient with a variant form of Cornelia de Lange syndrome (CDLS) who carried a mutation in the SMC3 gene. The patient had arched eyebrows, synophrys, and long eyelashes, thin lips, small hands ...
Molecular genetics OMIM The patient identified by Deardorff et al. (2007) with mild variant CDLS carried a de novo 3-bp deletion in the SMC3 gene (606062.0001). Deardorff et al. (2007) noted that the milder CDLS phenotype had been reported repeatedly and ...