COFFIN-SIRIS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: FIFTH DIGIT SYNDROME
CSS
Number of Symptoms 72
OrphanetNr:
OMIM Id: 135900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0000126) Hydronephrosis 119 / 7739
3
(HPO:0000151) Aplasia of the uterus 12 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000086) Ectopic kidney 29 / 7739
6
(HPO:0000089) Renal hypoplasia 78 / 7739
7
(HPO:0000527) Long eyelashes 46 / 7739
8
(HPO:0005280) Depressed nasal bridge 381 / 7739
9
(HPO:0000453) Choanal atresia 76 / 7739
10
(HPO:0001305) Dandy-Walker malformation 79 / 7739
11
(HPO:0000280) Coarse facial features 189 / 7739
12
(HPO:0002209) Sparse scalp hair 59 / 7739
13
(HPO:0000574) Thick eyebrow 96 / 7739
14
(HPO:0000455) Broad nasal tip 67 / 7739
15
(HPO:0000218) High palate 356 / 7739
16
(HPO:0012471) Thick vermilion border 115 / 7739
17
(HPO:0000175) Cleft palate 349 / 7739
18
(HPO:0000252) Microcephaly 832 / 7739
19
(HPO:0000154) Wide mouth 137 / 7739
20
(HPO:0000601) Hypotelorism 83 / 7739
21
(HPO:0000639) Nystagmus 555 / 7739
22
(HPO:0000486) Strabismus 576 / 7739
23
(HPO:0000545) Myopia 286 / 7739
24
(HPO:0000508) Ptosis 459 / 7739
25
(HPO:0000483) Astigmatism 67 / 7739
26
(HPO:0000365) Hearing impairment 539 / 7739
27
(HPO:0000384) Preauricular skin tag 62 / 7739
28
(HPO:0006863) Severe expressive language delay 2 / 7739
29
(HPO:0001250) Seizures 1245 / 7739
30
(HPO:0000729) Autistic behavior 27 / 7739
31
(HPO:0000718) Aggressive behavior 109 / 7739
32
(HPO:0001249) Intellectual disability 1089 / 7739
33
(HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
34
(HPO:0002673) Coxa valga 57 / 7739
35
(HPO:0003298) Spina bifida occulta 67 / 7739
36
(HPO:0002650) Scoliosis 705 / 7739
37
(HPO:0002750) Delayed skeletal maturation 250 / 7739
38
(HPO:0003083) Dislocated radial head 35 / 7739
39
(HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
40
(HPO:0002808) Kyphosis 289 / 7739
41
(HPO:0001388) Joint laxity 117 / 7739
42
(HPO:0000954) Single transverse palmar crease 162 / 7739
43
(HPO:0000960) Sacral dimple 29 / 7739
44
(HPO:0000879) Short sternum 16 / 7739
45
(HPO:0002592) Gastric ulcer 39 / 7739
46
(HPO:0001537) Umbilical hernia 206 / 7739
47
(HPO:0000023) Inguinal hernia 181 / 7739
48
(HPO:0002566) Intestinal malrotation 89 / 7739
49
(HPO:0011968) Feeding difficulties 240 / 7739
50
(HPO:0002588) Duodenal ulcer 15 / 7739
51
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
52
(HPO:0004322) Short stature 1232 / 7739
53
(HPO:0001511) Intrauterine growth retardation 358 / 7739
54
(HPO:0008897) Postnatal growth retardation 113 / 7739
55
(HPO:0009747) Lumbosacral hirsutism 2 / 7739
56
(HPO:0002219) Facial hypertrichosis 8 / 7739
57
(HPO:0000965) Cutis marmorata 46 / 7739
58
(HPO:0001028) Hemangioma 23 / 7739
59
(HPO:0001631) Atria septal defect 274 / 7739
60
(HPO:0001629) Ventricular septal defect 316 / 7739
61
(HPO:0001636) Tetralogy of Fallot 104 / 7739
62
(HPO:0001643) Patent ductus arteriosus 228 / 7739
63
(OMIM) Delayed dentition 5 / 7739
64
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
65
(OMIM) Microureter 1 / 7739
66
(HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
67
(OMIM) Frequent upper and lower respiratory tract infections 2 / 7739
68
(OMIM) Unusual fears 1 / 7739
69
(OMIM) Neonatal intussusception 1 / 7739
70
(OMIM) Agenesis of anterior commissure 1 / 7739
71
(OMIM) Moderate to severe hypotonia 1 / 7739
72
(OMIM) Hypoplastic to absent fifth finger- and toenails 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Coffin-Siris syndrome has been described as mental retardation associated with coarse facial features, hypertrichosis, and hypoplastic or absent fifth fingernails or toenails (summary by Santen et al., 2012). Other features including ptosis, choanal atresia, cardiac defects, and genital ...
Clinical Description OMIM Coffin and Siris (1970) described 3 unrelated girls with mental retardation and absent nail and terminal phalanx of the fifth finger. The nails and distal phalanges of the lateral toes were either absent or hypoplastic. No similar cases ...
Diagnosis GeneReviews Formal diagnostic criteria for Coffin-Siris syndrome (CSS) have not been established. ...
Clinical Description GeneReviews The understanding of the full phenotypic spectrum of Coffin-Siris syndrome (CSS) and its natural history are rapidly evolving due to the recent discovery of the molecular basis of CSS. The current knowledge regarding natural history has been derived largely from patients with detailed clinical information for whom the diagnosis was made on clinical findings alone. For these reasons the discussion of natural history below is based largely on detailed clinical reports published prior to the identification of the genes involved [Coffin & Siris 1970, Haspeslagh et al 1984, Swillen et al 1995, Fleck et al 2001, Schrier et al 2012]....
Differential Diagnosis GeneReviews A clinical diagnostic algorithm has been developed to assist in the differential diagnosis of Coffin-Siris syndrome (CSS) [Schrier et al 2012]. See Figure 2. ...
Management GeneReviews To establish the extent of disease and needs of an individual diagnosed with Coffin-Siris syndrome (CSS), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....