FRONTOFACIONASAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: FRONTOFACIONASAL DYSOSTOSIS
FFND
Number of Symptoms 28
OrphanetNr:
OMIM Id: 229400
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:0000248) Brachycephaly 222 / 7739
2
(HPO:0003196) Short nose 264 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000506) Telecanthus 156 / 7739
5
(HPO:0007835) S-shaped palpebral fissures 3 / 7739
6
(HPO:0005466) Hypoplasia of the frontal bone 3 / 7739
7
(HPO:0000625) Cleft eyelid 31 / 7739
8
(HPO:0000202) Oral cleft 120 / 7739
9
(HPO:0007708) Absent inner eyelashes 2 / 7739
10
(HPO:0004423) Cranium bifidum occultum 3 / 7739
11
(HPO:0011800) Midface retrusion 221 / 7739
12
(HPO:0000581) Blepharophimosis 197 / 7739
13
(HPO:0000193) Bifid uvula 66 / 7739
14
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
15
(HPO:0002084) Encephalocele 70 / 7739
16
(HPO:0000568) Microphthalmia 183 / 7739
17
(HPO:0011803) Bifid nose 12 / 7739
18
(HPO:0000508) Ptosis 459 / 7739
19
(HPO:0000612) Iris coloboma 116 / 7739
20
(HPO:0000482) Microcornea 102 / 7739
21
(HPO:0000518) Cataract 454 / 7739
22
(OMIM) Hare eye 1 / 7739
23
(OMIM) Incomplete eye closure 1 / 7739
24
(OMIM) Prefrontal lipoma 1 / 7739
25
(OMIM) Limbic dermoid 1 / 7739
26
(OMIM) Malformed eye 1 / 7739
27
(OMIM) Ankyloblepharon filiforme 2 / 7739
28
(OMIM) Lower lid lagophthalmos 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissues, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, ...
Clinical Description OMIM Gollop (1981) suggested that a disorder observed in a brother and sister whose parents were first cousins once removed represented a 'new' autosomal recessive disorder, which he called frontofacionasal dysostosis. The girl showed brachycephaly, bilateral blepharophimosis and ptosis, ...