DE SANCTIS-CACCHIONE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 34
OrphanetNr:
OMIM Id: 278800
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:0008639) Gonadal hypoplasia 2 / 7739
2
(HPO:0000656) Ectropion 25 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000621) Entropion 12 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(HPO:0000491) Keratitis 21 / 7739
7
(HPO:0000509) Conjunctivitis 47 / 7739
8
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
(HPO:0002066) Gait ataxia 327 / 7739
10
(HPO:0001284) Areflexia 198 / 7739
11
(HPO:0001251) Ataxia 413 / 7739
12
(HPO:0001257) Spasticity 251 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0001315) Reduced tendon reflexes 160 / 7739
15
(HPO:0001268) Mental deterioration 88 / 7739
16
(HPO:0001266) Choreoathetosis 57 / 7739
17
(HPO:0002311) Incoordination 84 / 7739
18
(HPO:0001265) Hyporeflexia 208 / 7739
19
(HPO:0003510) Severe short stature 90 / 7739
20
(HPO:0004334) Dermal atrophy 34 / 7739
21
(HPO:0001048) Cavernous hemangioma 28 / 7739
22
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
23
(HPO:0001029) Poikiloderma 23 / 7739
24
(HPO:0001009) Telangiectasia 46 / 7739
25
(HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
26
(OMIM) Cerebral and olivopontocerebellar atrophy 1 / 7739
27
(HPO:0001272) Cerebellar atrophy 197 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
30
(MedDRA:10023347) Keratoacanthoma 6 / 7739
31
(OMIM) Actinic keratoses 6 / 7739
32
(OMIM) Increased/decreased skin pigment 5 / 7739
33
(OMIM) Early onset skin cancer (basal cell, squamous cell and malignant melanoma) 6 / 7739
34
(OMIM) Early freckle-like lesions in exposed areas 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Sanctis and Cacchione (1932) reported a condition, which they called 'xerodermic idiocy,' in which patients had xeroderma pigmentosum, mental deficiency, progressive neurologic deterioration, dwarfism, and gonadal hypoplasia.

Reed et al. (1965) described xeroderma pigmentosum with ...

Molecular genetics OMIM In the patients reported by Greenhaw et al. (1992) with a clinical phenotype of de Sanctis-Cacchione syndrome and a biochemical profile of Cockayne syndrome type B, Colella et al. (2000) identified a homozygous mutation in the ERCC6 gene ...