EEC syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Number of Symptoms 101
OrphanetNr: 1896
OMIM Id: 129900
604292
ICD-10: Q82.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: EEC syndrome and related syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
Secondary entropion
 -Rare eye disease
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
4
 (HPO:0000054) Micropenis 257 / 7739
5
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
6
 (HPO:0000110) Renal dysplasia 44 / 7739
7
 (HPO:0000015) Bladder diverticulum 15 / 7739
8
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
9
 (HPO:0000143) Rectovaginal fistula 18 / 7739
10
 (HPO:0000081) Duplicated collecting system 16 / 7739
11
 (HPO:0000145) Transverse vaginal septum 4 / 7739
12
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
13
 (HPO:0000070) Ureterocele 5 / 7739
14
 (HPO:0000104) Renal agenesis 68 / 7739
15
 (HPO:0000126) Hydronephrosis 119 / 7739
16
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
17
 (HPO:0000437) Depressed nasal tip 17 / 7739
18
 (HPO:0000506) Telecanthus 156 / 7739
19
 (HPO:0000498) Blepharitis 27 / 7739
20
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
21
 (HPO:0000175) Cleft palate 349 / 7739
22
 (HPO:0000198) Absence of Stensen duct 4 / 7739
23
 (HPO:0000653) Sparse eyelashes 58 / 7739
24
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
25
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
26
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
27
 (HPO:0000272) Malar flattening 277 / 7739
28
 (HPO:0000217) Xerostomia Occasional [Orphanet] 35 / 7739
29
 (HPO:0001592) Selective tooth agenesis 16 / 7739
30
 (HPO:0000252) Microcephaly 832 / 7739
31
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
32
 (HPO:0002209) Sparse scalp hair 59 / 7739
33
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
34
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
35
 (HPO:0000581) Blepharophimosis 197 / 7739
36
 (HPO:0000204) Cleft upper lip 193 / 7739
37
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
38
 (HPO:0000455) Broad nasal tip 67 / 7739
39
 (HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
40
 (HPO:0000677) Oligodontia 41 / 7739
41
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
42
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
43
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
44
 (HPO:0000316) Hypertelorism 644 / 7739
45
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
46
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
47
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
48
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
49
 (HPO:0000620) Dacryocystitis 4 / 7739
50
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
51
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
52
 (HPO:0000635) Blue irides 25 / 7739
53
 (HPO:0008551) Microtia 98 / 7739
54
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
55
 (HPO:0000405) Conductive hearing impairment 164 / 7739
56
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
57
 (HPO:0004452) Abnormality of the middle ear ossicles Occasional [Orphanet] 26 / 7739
58
 (HPO:0011390) Morphological abnormality of the inner ear Occasional [Orphanet] 21 / 7739
59
 (HPO:0001249) Intellectual disability 1089 / 7739
60
 (HPO:0002557) Hypoplastic nipples 33 / 7739
61
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 28 / 7739
62
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
63
 (HPO:0000863) Central diabetes insipidus 7 / 7739
64
 (HPO:0000824) Growth hormone deficiency 56 / 7739
65
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
66
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
67
 (HPO:0001171) Split hand 72 / 7739
68
 (HPO:0001839) Split foot 28 / 7739
69
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
70
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
71
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
72
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
73
 (HPO:0001161) Hand polydactyly 71 / 7739
74
 (HPO:0000023) Inguinal hernia 181 / 7739
75
 (HPO:0002023) Anal atresia 135 / 7739
76
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
77
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
78
 (HPO:0000963) Thin skin 96 / 7739
79
 (HPO:0002217) Slow-growing hair Frequent [Orphanet] 22 / 7739
80
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
81
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
82
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
83
 (HPO:0001803) Nail pits 17 / 7739
84
 (HPO:0007513) Generalized hypopigmentation 12 / 7739
85
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
86
 (HPO:0002213) Fine hair Occasional [Orphanet] 77 / 7739
87
 (HPO:0001010) Hypopigmentation of the skin Frequent [Orphanet] 46 / 7739
88
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
89
 (HPO:0002286) Fair hair 20 / 7739
90
 (HPO:0002225) Sparse pubic hair 76 / 7739
91
 (HPO:0002215) Sparse axillary hair 21 / 7739
92
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
93
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
94
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
95
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
96
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Occasional [Orphanet] 17 / 7739
97
 (HPO:0001425) Heterogeneous 132 / 7739
98
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
99
 (HPO:0002507) Semilobar holoprosencephaly 6 / 7739
100
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
101
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: