MCID: ACR093
MIFTS: 29

Acrofrontofacionasal Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrofrontofacionasal Dysostosis

MalaCards integrated aliases for Acrofrontofacionasal Dysostosis:

Name: Acrofrontofacionasal Dysostosis 12 77 15
Acrofrontofacionasal Dysostosis Syndrome 54 45 74
Cleft Lip/palate with Frontonasal Dysostosis and Postaxial Polysyndactyly 54
Polysyndactyly, Postaxial, Frontonasal Dysostosis and Cleft Lip/palate 54
Acro Fronto Facio Nasal Dysostosis 54
Richieri-Costa-Colletto Syndrome 12
Affn Dysostosis 1 54
Affn Dysostosis 12

Classifications:



Summaries for Acrofrontofacionasal Dysostosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1784Disease definitionAcro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.EpidemiologyOnly 12 patients have been reported since the first description in 1985, 7 originate from Brazil.Clinical descriptionThe cranio-facial malformations are numerous and variable. They include brachycephaly or microbrachycephaly, prominent forehead with low frontal and occipital hairline, wide anterior fontanel, hypertelorism, large philtrum, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Other skeletal malformations are also present, with syndactyly of fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, coloboma of the upper lids, cataract, congenital glaucoma and iris atrophy. In some male patients, hypospadias, with or without cleft glans, and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration (without any corpus callosum abnormality). Encephalocele may occur.EtiologyThe etiology of acro-fronto-facio-nasal dysostosis is unknown.Genetic counselingAutosomal recessive transmission is probable.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrofrontofacionasal Dysostosis, also known as acrofrontofacionasal dysostosis syndrome, is related to neuroblastoma and acrofrontofacionasal dysostosis 1. An important gene associated with Acrofrontofacionasal Dysostosis is NBAS (Neuroblastoma Amplified Sequence). Affiliated tissues include eye, skin and bone, and related phenotypes are hypertelorism and abnormality of epiphysis morphology

Disease Ontology : 12 A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.

Wikipedia : 77 Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability,... more...

Related Diseases for Acrofrontofacionasal Dysostosis

Diseases in the Acrofrontofacionasal Dysostosis family:

Acrofrontofacionasal Dysostosis 1 Acrofrontofacionasal Dysostosis 2

Diseases related to Acrofrontofacionasal Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 29.5 ALX3 NBAS
2 acrofrontofacionasal dysostosis 1 12.5
3 acrofrontofacionasal dysostosis 2 12.4
4 frontonasal dysplasia 1 11.3
5 dysostosis 10.5
6 cleft lip 10.4
7 cleft lip/palate 10.4

Graphical network of the top 20 diseases related to Acrofrontofacionasal Dysostosis:



Diseases related to Acrofrontofacionasal Dysostosis

Symptoms & Phenotypes for Acrofrontofacionasal Dysostosis

Human phenotypes related to Acrofrontofacionasal Dysostosis:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 abnormality of epiphysis morphology 33 hallmark (90%) HP:0005930
3 high palate 33 hallmark (90%) HP:0000218
4 ptosis 33 hallmark (90%) HP:0000508
5 short stature 33 hallmark (90%) HP:0004322
6 broad thumb 33 hallmark (90%) HP:0011304
7 brachycephaly 33 hallmark (90%) HP:0000248
8 intellectual disability, severe 33 hallmark (90%) HP:0010864
9 cleft palate 33 hallmark (90%) HP:0000175
10 micromelia 33 hallmark (90%) HP:0002983
11 hypopigmented skin patches 33 hallmark (90%) HP:0001053
12 cerebral cortical atrophy 33 hallmark (90%) HP:0002120
13 non-midline cleft lip 33 hallmark (90%) HP:0100335
14 broad forehead 33 hallmark (90%) HP:0000337
15 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
16 brachydactyly 33 hallmark (90%) HP:0001156
17 anonychia 33 hallmark (90%) HP:0001798
18 broad nasal tip 33 hallmark (90%) HP:0000455
19 midface retrusion 33 hallmark (90%) HP:0011800
20 short distal phalanx of finger 33 hallmark (90%) HP:0009882
21 aplasia/hypoplasia of the eyebrow 33 hallmark (90%) HP:0100840
22 camptodactyly of finger 33 hallmark (90%) HP:0100490
23 brushfield spots 33 hallmark (90%) HP:0001088
24 dimple on nasal tip 33 hallmark (90%) HP:0004132
25 eyelid coloboma 33 hallmark (90%) HP:0000625
26 everted lower lip vermilion 33 frequent (33%) HP:0000232
27 hypospadias 33 occasional (7.5%) HP:0000047
28 bifid scrotum 33 occasional (7.5%) HP:0000048

Drugs & Therapeutics for Acrofrontofacionasal Dysostosis

Search Clinical Trials , NIH Clinical Center for Acrofrontofacionasal Dysostosis

Cochrane evidence based reviews: acrofrontofacionasal dysostosis syndrome

Genetic Tests for Acrofrontofacionasal Dysostosis

Anatomical Context for Acrofrontofacionasal Dysostosis

MalaCards organs/tissues related to Acrofrontofacionasal Dysostosis:

42
Eye, Skin, Bone

Publications for Acrofrontofacionasal Dysostosis

Articles related to Acrofrontofacionasal Dysostosis:

# Title Authors Year
1
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. ( 29929043 )
2018
2
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. ( 22052670 )
2011
3
Acrofrontofacionasal dysostosis: report of the third Brazilian family. ( 12749073 )
2003

Variations for Acrofrontofacionasal Dysostosis

Expression for Acrofrontofacionasal Dysostosis

Search GEO for disease gene expression data for Acrofrontofacionasal Dysostosis.

Pathways for Acrofrontofacionasal Dysostosis

GO Terms for Acrofrontofacionasal Dysostosis

Cellular components related to Acrofrontofacionasal Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.62 CYP1B1 NBAS

Sources for Acrofrontofacionasal Dysostosis

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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