Orofaciodigital syndrome type 11

General Information (adopted from Orphanet):

Synonyms, Signs: ORAL-FACIAL-DIGITAL SYNDROME WITH SKELETAL ANOMALIES
OFDS XI
GABRIELLI SYNDROME
ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI
OFD11
Orofaciodigital syndrome, Gabrielli type
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome, Gabrielli type
Number of Symptoms 15
OrphanetNr: 141000
OMIM Id: 612913
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofaciodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0002751) Kyphoscoliosis 131 / 7739
4
 (HPO:0003310) Abnormality of the odontoid process 5 / 7739
5
 (OMIM) Hypoplastic and slightly abnormal odontoid process 1 / 7739
6
 (HPO:0003745) Sporadic 131 / 7739
7
 (OMIM) Partial synostosis between the atlas and the base of the occiput 1 / 7739
8
 (OMIM) Vomer duplication 1 / 7739
9
 (OMIM) Nasopharyngeal hairy polyp 1 / 7739
10
 (OMIM) Fusion of C2 and C3 posterior arches 1 / 7739
11
 (OMIM) Cleft of cervical and dorsal vertebral bodies 1 / 7739
12
 (OMIM) Cleft ethmoid bone 1 / 7739
13
 (OMIM) Empty sella turcica 1 / 7739
14
 (OMIM) Incomplete crista galli apophysis with small ethmoidal plate dehiscence 1 / 7739
15
 (OMIM) Psychomotor delay, severe 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gabrielli et al. (1994) reported a boy with an oral-facial-digital syndrome associated with skeletal anomalies and severe psychomotor delay. A CT scan of the skull showed vomer duplication, cleft ethmoid bone, incomplete crista galli apophysis with small ethmoidal ...