ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1

General Information (adopted from Orphanet):

Synonyms, Signs: EEC SYNDROME 1
EEC1
EEC
Number of Symptoms 49
OrphanetNr:
OMIM Id: 129900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000081) Duplicated collecting system 16 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000126) Hydronephrosis 119 / 7739
5
(HPO:0000072) Hydroureter 146 / 7739
6
(HPO:0000110) Renal dysplasia 44 / 7739
7
(HPO:0000015) Bladder diverticulum 15 / 7739
8
(HPO:0000028) Cryptorchidism 347 / 7739
9
(HPO:0000076) Vesicoureteral reflux 94 / 7739
10
(HPO:0000070) Ureterocele 5 / 7739
11
(HPO:0000145) Transverse vaginal septum 4 / 7739
12
(HPO:0000104) Renal agenesis 68 / 7739
13
(HPO:0000653) Sparse eyelashes 58 / 7739
14
(HPO:0001592) Selective tooth agenesis 16 / 7739
15
(HPO:0000691) Microdontia 104 / 7739
16
(HPO:0002209) Sparse scalp hair 59 / 7739
17
(HPO:0000437) Depressed nasal tip 17 / 7739
18
(HPO:0000175) Cleft palate 349 / 7739
19
(HPO:0000198) Absence of Stensen duct 4 / 7739
20
(HPO:0000581) Blepharophimosis 197 / 7739
21
(HPO:0000453) Choanal atresia 76 / 7739
22
(HPO:0000217) Xerostomia 35 / 7739
23
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
24
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
25
(HPO:0000670) Carious teeth 145 / 7739
26
(HPO:0000204) Cleft upper lip 193 / 7739
27
(HPO:0000498) Blepharitis 27 / 7739
28
(HPO:0000613) Photophobia 158 / 7739
29
(HPO:0000635) Blue irides 25 / 7739
30
(HPO:0000377) Abnormality of the pinna 111 / 7739
31
(HPO:0000365) Hearing impairment 539 / 7739
32
(HPO:0001249) Intellectual disability 1089 / 7739
33
(HPO:0002557) Hypoplastic nipples 33 / 7739
34
(HPO:0000863) Central diabetes insipidus 7 / 7739
35
(HPO:0000824) Growth hormone deficiency 56 / 7739
36
(HPO:0100257) Ectrodactyly 27 / 7739
37
(HPO:0001159) Syndactyly 140 / 7739
38
(HPO:0002286) Fair hair 20 / 7739
39
(HPO:0002215) Sparse axillary hair 21 / 7739
40
(HPO:0007513) Generalized hypopigmentation 12 / 7739
41
(HPO:0001803) Nail pits 17 / 7739
42
(HPO:0002225) Sparse pubic hair 76 / 7739
43
(OMIM) Lacrimal duct abnormalities 3 / 7739
44
(HPO:0002507) Semilobar holoprosencephaly 6 / 7739
45
(OMIM) Small auricles 2 / 7739
46
(OMIM) Mild malar hypoplasia 1 / 7739
47
(OMIM) Hyperkeratosis, mild 3 / 7739
48
(OMIM) Dystophic nails 1 / 7739
49
(MedDRA:10011844) Dacryocystitis 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rudiger et al. (1970) suggested the designation EEC for the syndrome observed in a female child. The features were ectrodactyly of both hands and one foot, ectodermal dysplasia with severe keratitis, and cleft lip/palate. This disorder is probably ...