FFND
MCID: FRN022
MIFTS: 27

Frontofacionasal Dysplasia (FFND)

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

Aliases & Classifications for Frontofacionasal Dysplasia

MalaCards integrated aliases for Frontofacionasal Dysplasia:

Name: Frontofacionasal Dysplasia 56 52 58
Frontofacionasal Dysostosis 56 52
Ffnd 56 52
Fronto-Facio-Nasal Dysostosis 52
Fronto-Facio-Nasal Dysplasia 71
Fronto-Facio-Nasal Dyplasia 52
Gollop Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
frontofacionasal dysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
frontofacionasal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Frontofacionasal Dysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1791 Definition A rare congenital malformation 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). Epidemiology Five cases have been reported so far. Clinical description The etiology remains unknown. Genetic counseling The 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 : 56 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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 acrofrontofacionasal dysostosis 12.4
2 acrofrontofacionasal dysostosis 2 12.1
3 frontonasal dysplasia 1 11.4
4 chromosome 2q35 duplication syndrome 10.6
5 acrofrontofacionasal dysostosis 1 10.5
6 hypospadias 10.5
7 coloboma of macula 10.4
8 nail disorder, nonsyndromic congenital, 9 10.4
9 exophthalmos 10.4
10 frontal encephalocele 10.4
11 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.4
12 dysostosis 10.3
13 cleft lip 10.3
14 hypertelorism 10.2
15 telecanthus 10.2
16 encephalocele 10.2
17 cleft lip/palate 10.2
18 facial cleft 10.2

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
8 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
9 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
10 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
11 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 facial cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0002006
13 upper eyelid coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000636
14 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
15 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
16 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
17 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
18 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
19 brushfield spots 58 31 frequent (33%) Frequent (79-30%) HP:0001088
20 encephalocele 58 31 frequent (33%) Frequent (79-30%) HP:0002084
21 hypoplasia of olfactory tract 58 31 frequent (33%) Frequent (79-30%) HP:0007036
22 bifid nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000456
23 absent inner eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0007708
24 limbal dermoid 31 frequent (33%) HP:0001140
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
27 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
28 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
29 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
30 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
31 dimple on nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0004132
32 malar flattening 31 HP:0000272
33 underdeveloped nasal alae 31 HP:0000430
34 cleft upper lip 31 HP:0000204
35 epibulbar dermoid 58 Frequent (79-30%)
36 oral cleft 31 HP:0000202
37 ankyloblepharon 31 HP:0009755
38 bifid uvula 31 HP:0000193
39 midline defect of the nose 31 HP:0004122
40 bifid nose 31 HP:0011803
41 cranium bifidum occultum 31 HP:0004423
42 hypoplasia of the frontal bone 31 HP:0005466
43 s-shaped palpebral fissures 31 HP:0007835
44 frontal cutaneous lipoma 31 HP:0007541
45 eyelid coloboma 31 HP:0000625

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Bone, Skin

Publications for Frontofacionasal Dysplasia

Articles related to Frontofacionasal Dysplasia:

(show all 13)
# Title Authors PMID Year
1
Frontofacionasal dysplasia: a new case and review of the phenotype. 61 56
8205327 1994
2
Frontofacionasal dysplasia. 61 56
1951440 1991
3
Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. 61 56
6439039 1984
4
Fronto-facio-nasal dysplasia in two sisters with additional findings. 56
11071102 2000
5
Fronto-facio-nasal dysplasia. 56
9220195 1997
6
Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome. 56
7332033 1981
7
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1. 61
26495166 2015
8
Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis. 61
19634215 2009
9
De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy. 61
10995502 2000
10
Oculoauriculofrontonasal spectrum in an adult Brazilian male. 61
9220196 1997
11
Cranio-oculo-fronto-nasal malformation: a new MCA condition? 61
9018414 1997
12
Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: severe frontofacionasal "dysplasia" or newly recognised syndrome? 61
8725783 1996
13
Midline facial defects with ocular colobomata. 61
1700608 1990

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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