Zunich-Kaye syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ZUNICH NEUROECTODERMAL SYNDROME
CHIME
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual deficit - ear anomalies syndrome
chime syndrome
Number of Symptoms 93
OrphanetNr: 3474
OMIM Id: 280000
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with cardiac malformation as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with deafness as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
 -Rare genetic disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
3
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
4
 (HPO:0000480) Retinal coloboma 16 / 7739
5
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
7
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
8
 (HPO:0001520) Large for gestational age 34 / 7739
9
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
10
 (HPO:0001641) Abnormality of the pulmonary valve Frequent [Orphanet] 27 / 7739
11
 (HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
12
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
13
 (HPO:0001669) Transposition of the great arteries Frequent [Orphanet] 36 / 7739
14
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
15
 (HPO:0006721) Acute lymphoblastic leukemia 7 / 7739
16
 (HPO:0001252) Muscular hypotonia 990 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0010547) Muscle flaccidity 466 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0008760) Violent behavior 2 / 7739
21
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0002136) Broad-based gait 30 / 7739
24
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
25
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
26
 (HPO:0009776) Adactyly Frequent [Orphanet] 11 / 7739
27
 (HPO:0100760) Clubbing of toes Occasional [Orphanet] 24 / 7739
28
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
29
 (HPO:0001833) Long foot 33 / 7739
30
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
31
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
32
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
33
 (HPO:0009473) Joint contracture of the hand 84 / 7739
34
 (HPO:0001176) Large hands 43 / 7739
35
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
36
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
37
 (HPO:0002007) Frontal bossing 366 / 7739
38
 (HPO:0011220) Prominent forehead 137 / 7739
39
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Very frequent [Orphanet] 28 / 7739
40
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
41
 (HPO:0002557) Hypoplastic nipples 33 / 7739
42
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
43
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
44
 (HPO:0008070) Sparse hair 94 / 7739
45
 (HPO:0002213) Fine hair Occasional [Orphanet] 77 / 7739
46
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
47
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
48
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
49
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
50
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
51
 (HPO:0000175) Cleft palate 349 / 7739
52
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
53
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
54
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
55
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
56
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
57
 (HPO:0000687) Widely spaced teeth 40 / 7739
58
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
59
 (HPO:0000154) Wide mouth 137 / 7739
60
 (HPO:0005280) Depressed nasal bridge 381 / 7739
61
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
62
 (HPO:0000431) Wide nasal bridge 290 / 7739
63
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
64
 (HPO:0000405) Conductive hearing impairment 164 / 7739
65
 (HPO:0000465) Webbed neck 81 / 7739
66
 (HPO:0002562) Low-set nipples 2 / 7739
67
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
68
 (HPO:0000396) Overfolded helix 21 / 7739
69
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
70
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
71
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
72
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
73
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
74
 (HPO:0000081) Duplicated collecting system 16 / 7739
75
 (HPO:0000126) Hydronephrosis 119 / 7739
76
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
77
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
78
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
79
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
80
 (HPO:0002059) Cerebral atrophy 171 / 7739
81
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
82
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
83
 (OMIM) Bifid incisor 1 / 7739
84
 (OMIM) Birth length > 90th percentile 1 / 7739
85
 (OMIM) Broad second toes 1 / 7739
86
 (OMIM) Fifth finger clinodactyly/camptodactyly 1 / 7739
87
 (OMIM) Flattened occiput 3 / 7739
88
 (OMIM) Large feet 12 / 7739
89
 (OMIM) Light, fine hair 1 / 7739
90
 (OMIM) Migratory ichthyosiform dermatosis 1 / 7739
91
 (OMIM) Self-abusive behavior 2 / 7739
92
 (OMIM) Sole thickening 2 / 7739
93
 (OMIM) Thickened palms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, ...
Clinical Description OMIM Zunich and Kaye (1983, 1984) and Zunich et al. (1985) described 2 unrelated children with a seemingly distinct neuroectodermal syndrome characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, mental retardation, and remarkably similar ...
Molecular genetics OMIM In 6 unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (2012) identified compound heterozygosity for 2 mutations in the PIGL gene. All patients carried a founder missense mutation on 1 allele (L167P; 605947.0001). Five patients carried a ...