Zlotogora-Ogur syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED
ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED
ZLOTOGORA-OGUR SYNDROME
ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE
ECTODERMAL DYSPLASIA, TYPE 4
OFC7, INCLUDED
CLPED1
ED4
Syndactyly-ectodermal dysplasia-cleft/lip palate
Cleft lip/palate-ectodermal dysplasia syndrome
Zlotogora-Zilberman-Tenenbaum syndrome
Cleft lip/palate-syndactyly-pili torti
Number of Symptoms 59
OrphanetNr: 3253
OMIM Id: 225060
ICD-10:
UMLs:
MeSH: C536726
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cleft lip/palate - ectodermal dysplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008714) Ureterovesical stenosis Occasional [Orphanet] 10 / 7739
2
 (HPO:0000046) Scrotal hypoplasia Frequent [Orphanet] 54 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
5
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
7
 (HPO:0000315) Abnormality of the orbital region Occasional [Orphanet] 18 / 7739
8
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
9
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
10
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
11
 (HPO:0000668) Hypodontia 81 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
13
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
14
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
15
 (HPO:0000325) Triangular face 91 / 7739
16
 (HPO:0000653) Sparse eyelashes 58 / 7739
17
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
18
 (HPO:0000691) Microdontia 104 / 7739
19
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
20
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
21
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
22
 (HPO:0000674) Anodontia 18 / 7739
23
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
24
 (HPO:0005338) Sparse lateral eyebrow Frequent [Orphanet] 21 / 7739
25
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
26
 (HPO:0000288) Abnormality of the philtrum 54 / 7739
27
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
28
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
29
 (HPO:0000598) Abnormality of the ear 98 / 7739
30
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
31
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
32
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
33
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
34
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
35
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
36
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
37
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
38
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
39
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
40
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
41
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
42
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
43
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
44
 (HPO:0002296) Progressive hypotrichosis 2 / 7739
45
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
46
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
47
 (HPO:0010719) Abnormality of hair texture 24 / 7739
48
 (HPO:0003777) Pili torti Frequent [Orphanet] 24 / 7739
49
 (HPO:0002164) Nail dysplasia 82 / 7739
50
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
51
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
52
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
53
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
54
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
55
 (OMIM) Short, brittle hair 1 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
57
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
 (OMIM) Anteverted pinnae 1 / 7739
59
 (OMIM) Normal sweating capacity 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zlotogora et al. (1987) reported 2 sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes. An older sib also had mental retardation and pili ...
Molecular genetics OMIM In patients with the Margarita type of ectodermal dysplasia, Suzuki et al. (2000) identified a nonsense mutation in the poliovirus receptor-like-1 gene (PVRL1; 600644.0001). The authors suggested that the high frequency of the disorder on Margarita Island may ...