Anophthalmia - megalocornea - cardiopathy - skeletal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Cassia Stocco dos Santos syndrome
Number of Symptoms 28
OrphanetNr: 1101
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
3
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
4
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
5
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
6
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
7
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
8
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
9
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
10
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
11
 (HPO:0001131) Corneal dystrophy Frequent [Orphanet] 56 / 7739
12
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
13
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
14
 (HPO:0000485) Megalocornea Frequent [Orphanet] 26 / 7739
15
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
16
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
17
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
18
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
19
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
20
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
21
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
22
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
23
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
24
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
25
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
26
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
27
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
28
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: