ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3

General Information (adopted from Orphanet):

Synonyms, Signs: EEC SYNDROME 3
EEC3
Number of Symptoms 55
OrphanetNr:
OMIM Id: 604292
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:0000070) Ureterocele 5 / 7739
2
(HPO:0000126) Hydronephrosis 119 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
5
(HPO:0000145) Transverse vaginal septum 4 / 7739
6
(HPO:0000015) Bladder diverticulum 15 / 7739
7
(HPO:0000072) Hydroureter 146 / 7739
8
(HPO:0000028) Cryptorchidism 347 / 7739
9
(HPO:0000110) Renal dysplasia 44 / 7739
10
(HPO:0000081) Duplicated collecting system 16 / 7739
11
(HPO:0000076) Vesicoureteral reflux 94 / 7739
12
(HPO:0000104) Renal agenesis 68 / 7739
13
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
14
(HPO:0000204) Cleft upper lip 193 / 7739
15
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
16
(HPO:0001739) Abnormality of the nasopharynx 16 / 7739
17
(HPO:0001592) Selective tooth agenesis 16 / 7739
18
(HPO:0000175) Cleft palate 349 / 7739
19
(HPO:0000198) Absence of Stensen duct 4 / 7739
20
(HPO:0000670) Carious teeth 145 / 7739
21
(HPO:0000272) Malar flattening 277 / 7739
22
(HPO:0000653) Sparse eyelashes 58 / 7739
23
(HPO:0000453) Choanal atresia 76 / 7739
24
(HPO:0000437) Depressed nasal tip 17 / 7739
25
(HPO:0000581) Blepharophimosis 197 / 7739
26
(HPO:0000217) Xerostomia 35 / 7739
27
(HPO:0002209) Sparse scalp hair 59 / 7739
28
(HPO:0000498) Blepharitis 27 / 7739
29
(HPO:0000691) Microdontia 104 / 7739
30
(HPO:0000620) Dacryocystitis 4 / 7739
31
(HPO:0000635) Blue irides 25 / 7739
32
(HPO:0000613) Photophobia 158 / 7739
33
(HPO:0000365) Hearing impairment 539 / 7739
34
(HPO:0000377) Abnormality of the pinna 111 / 7739
35
(HPO:0008551) Microtia 98 / 7739
36
(HPO:0001249) Intellectual disability 7% [HPO:probinson] 1089 / 7739
37
(HPO:0002557) Hypoplastic nipples 33 / 7739
38
(HPO:0000863) Central diabetes insipidus 7 / 7739
39
(HPO:0000824) Growth hormone deficiency 56 / 7739
40
(HPO:0100257) Ectrodactyly 27 / 7739
41
(HPO:0001159) Syndactyly 140 / 7739
42
(HPO:0001171) Split hand 72 / 7739
43
(HPO:0001770) Toe syndactyly 149 / 7739
44
(HPO:0001839) Split foot 28 / 7739
45
(HPO:0000968) Ectodermal dysplasia 46 / 7739
46
(HPO:0008404) Nail dystrophy 89 / 7739
47
(HPO:0002215) Sparse axillary hair 21 / 7739
48
(HPO:0007513) Generalized hypopigmentation 12 / 7739
49
(HPO:0000962) Hyperkeratosis 216 / 7739
50
(HPO:0001803) Nail pits 17 / 7739
51
(HPO:0002286) Fair hair 20 / 7739
52
(HPO:0002225) Sparse pubic hair 76 / 7739
53
(MedDRA:10011844) Dacryocystitis 4 / 7739
54
(OMIM) Lacrimal duct abnormalities 3 / 7739
55
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate ...
Clinical Description OMIM The features of EEC syndrome are ectrodactyly of hands and feet, ectodermal dysplasia, and cleft lip/palate. Maas et al. (1996) found great variability in the clinical manifestations of EEC in affected members of a large Dutch kindred. Specific ...
Genotype-Phenotype Correlations OMIM In affected members of 2 unrelated families with EEC syndrome, features of LMS, and severe micturition difficulties, Maclean et al. (2007) identified the R227Q mutation in the TP63 gene (603273.0024). Noting that 4 of the 6 cases/families reported ...
Molecular genetics OMIM By analysis of the TP63 gene, which is located in the critical LMS/EEC3 interval, Celli et al. (1999) identified heterozygous mutations in 9 unrelated EEC3 families. Eight mutations resulted in amino acid substitutions that were predicted to abolish ...