Torticollis - keloids - cryptorchidism - renal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: GOEMINNE SYNDROME
TKCR SYNDROME
TKCR
TKC
Number of Symptoms 39
OrphanetNr: 3341
OMIM Id: 314300
ICD-10: Q87.8
UMLs: C1839129
MeSH: C536970
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
2
 (HPO:0000798) Oligospermia 13 / 7739
3
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
4
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
7
 (HPO:0008717) Unilateral renal atrophy 1 / 7739
8
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
9
 (HPO:0000123) Nephritis 18 / 7739
10
 (HPO:0000110) Renal dysplasia 44 / 7739
11
 (HPO:0000789) Infertility Frequent [Orphanet] 74 / 7739
12
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
13
 (HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
14
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
15
 (HPO:0000324) Facial asymmetry 57 / 7739
16
 (HPO:0000473) Torticollis 42 / 7739
17
 (HPO:0005988) Congenital muscular torticollis Very frequent [Orphanet] 11 / 7739
18
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
19
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
20
 (HPO:0000308) Microretrognathia Occasional [Orphanet] 78 / 7739
21
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
22
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
23
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
24
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
25
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
26
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
27
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
28
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
29
 (HPO:0010562) Keloids 11 / 7739
30
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
31
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
32
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
33
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
34
 (HPO:0002619) Varicose veins 11 / 7739
35
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
36
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
37
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
38
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
39
 (MedDRA:10037601) Pyelonephritis chronic 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goeminne (1968) described an apparently novel X-linked trait with incomplete dominance. None of the affected males reproduced. Affected persons included (1) a male with congenital muscular torticollis; (2) a male with torticollis, cryptorchidism and varicose veins; (3) a ...