Syngnathia multiple anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 3262
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
4
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
5
 (HPO:0000453) Choanal atresia Very frequent [Orphanet] 76 / 7739
6
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
7
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
8
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
9
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
10
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
11
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
12
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
13
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
16
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: