CORNELIA DE LANGE SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: DE LANGE SYNDROME
BRACHMANN-DE LANGE SYNDROME
TYPUS DEGENERATIVUS AMSTELODAMENSIS
BDLS
CDL
CDLS
CDLS1
Number of Symptoms 58
OrphanetNr:
OMIM Id: 122470
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000086) Ectopic kidney 29 / 7739
2
(HPO:0012210) Abnormal renal morphology 18 / 7739
3
(HPO:0000076) Vesicoureteral reflux 94 / 7739
4
(HPO:0000089) Renal hypoplasia 78 / 7739
5
(HPO:0000093) Proteinuria 169 / 7739
6
(HPO:0000028) Cryptorchidism 347 / 7739
7
(HPO:0012211) Abnormal renal physiology 23 / 7739
8
(HPO:0000050) Hypoplastic male external genitalia 10 / 7739
9
(HPO:0000463) Anteverted nares 305 / 7739
10
(HPO:0000343) Long philtrum 262 / 7739
11
(HPO:0000248) Brachycephaly 222 / 7739
12
(HPO:0000219) Thin upper lip vermilion 112 / 7739
13
(HPO:0000218) High palate 356 / 7739
14
(HPO:0002162) Low posterior hairline 88 / 7739
15
(HPO:0000664) Synophrys 112 / 7739
16
(HPO:0005280) Depressed nasal bridge 381 / 7739
17
(HPO:0002714) Downturned corners of mouth 98 / 7739
18
(HPO:0000470) Short neck 345 / 7739
19
(HPO:0000202) Oral cleft 120 / 7739
20
(HPO:0000347) Micrognathia 426 / 7739
21
(HPO:0000687) Widely spaced teeth 40 / 7739
22
(HPO:0000252) Microcephaly 832 / 7739
23
(HPO:0000545) Myopia 286 / 7739
24
(HPO:0000508) Ptosis 459 / 7739
25
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
26
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
27
(HPO:0000369) Low-set ears 372 / 7739
28
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
29
(HPO:0100716) Self-injurious behavior 43 / 7739
30
(HPO:0000750) Delayed speech and language development 197 / 7739
31
(HPO:0001276) Hypertonia 317 / 7739
32
(HPO:0001249) Intellectual disability 1089 / 7739
33
(HPO:0002557) Hypoplastic nipples 33 / 7739
34
(HPO:0003083) Dislocated radial head 35 / 7739
35
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
36
(HPO:0012165) Oligodactyly 18 / 7739
37
(HPO:0001377) Limited elbow extension 38 / 7739
38
(HPO:0000954) Single transverse palmar crease 162 / 7739
39
(HPO:0009623) Proximal placement of thumb 50 / 7739
40
(HPO:0009829) Phocomelia 20 / 7739
41
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
42
(HPO:0002021) Pyloric stenosis 51 / 7739
43
(HPO:0002020) Gastroesophageal reflux 101 / 7739
44
(HPO:0001511) Intrauterine growth retardation 358 / 7739
45
(HPO:0004322) Short stature 1232 / 7739
46
(HPO:0001007) Hirsutism 91 / 7739
47
(HPO:0000965) Cutis marmorata 46 / 7739
48
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
49
(HPO:0002090) Pneumonia 59 / 7739
50
(OMIM) Syndactyly of toes 2 and 3 2 / 7739
51
(OMIM) Conductive hearing loss to due otitis media 1 / 7739
52
(OMIM) Long curly eyelashes 3 / 7739
53
(OMIM) Late-erupting teeth 1 / 7739
54
(OMIM) Absent/poor corticomedullary differentiation (some patients) 1 / 7739
55
(OMIM) Isolated renal cyst (rare) 1 / 7739
56
(OMIM) Low-pitched, growling cry in infancy 1 / 7739
57
(OMIM) Specific growth curves are available 5 / 7739
58
(OMIM) Pelvic dilation 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, ...
Clinical Description OMIM Brachmann (1916) reported on a fetus with a very severe form of what is now known as the Cornelia de Lange syndrome. In Amsterdam, Cornelia de Lange (1933) described 2 infant girls with mental deficiency and other features ...
Genotype-Phenotype Correlations OMIM Yan et al. (2006) identified 13 different NIPBL mutations, including 11 novel mutations, in 13 (46%) of 28 Polish patients with a clinical diagnosis of CDLS. Eleven of the mutations resulted in a premature termination of the protein. ...
Molecular genetics OMIM Tonkin et al. (2004) screened multiple individuals with CDLS for mutations in the NIPBL gene (608667) and identified 9 plausible point mutations, at least 5 of which arose de novo (see, e.g., 608667.0002; 608667.0004, and 608667.0006). They found ...
Population genetics OMIM Beck (1976) estimated the frequency to be 0.6 per 100,000 in Denmark. The oldest patient found in a nationwide survey was 49 years old. Beck's series contained a half brother and sister (same mother), one instance of parental ...