MCID: FRN022
MIFTS: 28

Frontofacionasal Dysplasia

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontofacionasal Dysplasia

MalaCards integrated aliases for Frontofacionasal Dysplasia:

Name: Frontofacionasal Dysplasia 58 54 60
Frontofacionasal Dysostosis 58 54
Ffnd 58 54
Fronto-Facio-Nasal Dysostosis 54
Fronto-Facio-Nasal Dysplasia 74
Fronto-Facio-Nasal Dyplasia 54
Gollop Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
frontofacionasal dysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
frontofacionasal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Frontofacionasal Dysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1791Disease definitionFronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).EpidemiologyFive cases have been reported so far.Clinical descriptionThe etiology remains unknown.Genetic counselingThe syndrome is inherited in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Frontofacionasal Dysplasia, also known as frontofacionasal dysostosis, is related to acrofrontofacionasal dysostosis and acrofrontofacionasal dysostosis 2. Affiliated tissues include eye, bone and skin, and related phenotypes are hypertelorism and ptosis

OMIM : 58 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, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760). (229400)

Related Diseases for Frontofacionasal Dysplasia

Diseases related to Frontofacionasal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrofrontofacionasal dysostosis 12.3
2 acrofrontofacionasal dysostosis 2 11.6
3 frontonasal dysplasia 1 11.3
4 chromosome 2q35 duplication syndrome 10.4
5 cleft lip 10.4
6 cleft lip/palate 10.4
7 dysostosis 10.3

Graphical network of the top 20 diseases related to Frontofacionasal Dysplasia:



Diseases related to Frontofacionasal Dysplasia

Symptoms & Phenotypes for Frontofacionasal Dysplasia

Human phenotypes related to Frontofacionasal Dysplasia:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
7 non-midline cleft lip 60 33 hallmark (90%) Very frequent (99-80%) HP:0100335
8 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
9 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
10 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
11 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
12 facial cleft 60 33 hallmark (90%) Very frequent (99-80%) HP:0002006
13 upper eyelid coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000636
14 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
15 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
16 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
17 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
18 preauricular skin tag 60 33 frequent (33%) Frequent (79-30%) HP:0000384
19 encephalocele 60 33 frequent (33%) Frequent (79-30%) HP:0002084
20 hypoplasia of olfactory tract 60 33 frequent (33%) Frequent (79-30%) HP:0007036
21 brushfield spots 60 33 frequent (33%) Frequent (79-30%) HP:0001088
22 bifid nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000456
23 absent inner eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0007708
24 limbal dermoid 33 frequent (33%) HP:0001140
25 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
26 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
27 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
28 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
29 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
30 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
31 dimple on nasal tip 60 33 occasional (7.5%) Occasional (29-5%) HP:0004132
32 malar flattening 33 HP:0000272
33 underdeveloped nasal alae 33 HP:0000430
34 epibulbar dermoid 60 Frequent (79-30%)
35 cleft upper lip 33 HP:0000204
36 oral cleft 33 HP:0000202
37 ankyloblepharon 33 HP:0009755
38 bifid uvula 33 HP:0000193
39 midline defect of the nose 33 HP:0004122
40 bifid nose 33 HP:0011803
41 cranium bifidum occultum 33 HP:0004423
42 hypoplasia of the frontal bone 33 HP:0005466
43 frontal cutaneous lipoma 33 HP:0007541
44 eyelid coloboma 33 HP:0000625
45 s-shaped palpebral fissures 33 HP:0007835

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
cataract
telecanthus
microphthalmia
more
Head And Neck Nose:
bifid nose
nasal hypoplasia
hypoplastic nasal wings

Head And Neck Face:
midface hypoplasia

Head And Neck Head:
brachycephaly
encephalocele
prefrontal lipoma

Head And Neck Mouth:
cleft lip/palate
cleft uvula

Clinical features from OMIM:

229400

Drugs & Therapeutics for Frontofacionasal Dysplasia

Search Clinical Trials , NIH Clinical Center for Frontofacionasal Dysplasia

Genetic Tests for Frontofacionasal Dysplasia

Anatomical Context for Frontofacionasal Dysplasia

MalaCards organs/tissues related to Frontofacionasal Dysplasia:

42
Eye, Bone, Skin

Publications for Frontofacionasal Dysplasia

Articles related to Frontofacionasal Dysplasia:

# Title Authors Year
1
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1. ( 26495166 )
2015
2
Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis. ( 19634215 )
2009
3
De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy. ( 10995502 )
2000
4
Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: severe frontofacionasal "dysplasia" or newly recognised syndrome? ( 8725783 )
1996
5
Frontofacionasal dysplasia: a new case and review of the phenotype. ( 8205327 )
1994
6
Frontofacionasal dysplasia. ( 1951440 )
1991
7
Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. ( 6439039 )
1984

Variations for Frontofacionasal Dysplasia

Expression for Frontofacionasal Dysplasia

Search GEO for disease gene expression data for Frontofacionasal Dysplasia.

Pathways for Frontofacionasal Dysplasia

GO Terms for Frontofacionasal Dysplasia

Sources for Frontofacionasal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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