MCID: ACR093
MIFTS: 32

Acrofrontofacionasal Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrofrontofacionasal Dysostosis

MalaCards integrated aliases for Acrofrontofacionasal Dysostosis:

Name: Acrofrontofacionasal Dysostosis 12 76 15
Acrofrontofacionasal Dysostosis Syndrome 53 44 73
Cleft Lip/palate with Frontonasal Dysostosis and Postaxial Polysyndactyly 53
Polysyndactyly, Postaxial, Frontonasal Dysostosis and Cleft Lip/palate 53
Acro Fronto Facio Nasal Dysostosis 53
Richieri-Costa-Colletto Syndrome 12
Affn Dysostosis 1 53
Affn Dysostosis 12

Classifications:



Summaries for Acrofrontofacionasal Dysostosis

NIH Rare Diseases : 53 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 acrofrontofacionasal dysostosis 1 and acrofrontofacionasal dysostosis 2. 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 : 76 Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability,... more...

Related Diseases for Acrofrontofacionasal Dysostosis

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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
3 high palate 32 hallmark (90%) HP:0000218
4 ptosis 32 hallmark (90%) HP:0000508
5 short stature 32 hallmark (90%) HP:0004322
6 broad thumb 32 hallmark (90%) HP:0011304
7 brachycephaly 32 hallmark (90%) HP:0000248
8 intellectual disability, severe 32 hallmark (90%) HP:0010864
9 cleft palate 32 hallmark (90%) HP:0000175
10 micromelia 32 hallmark (90%) HP:0002983
11 everted lower lip vermilion 32 frequent (33%) HP:0000232
12 hypopigmented skin patches 32 hallmark (90%) HP:0001053
13 cerebral cortical atrophy 32 hallmark (90%) HP:0002120
14 non-midline cleft lip 32 hallmark (90%) HP:0100335
15 broad forehead 32 hallmark (90%) HP:0000337
16 hypospadias 32 occasional (7.5%) HP:0000047
17 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
18 brachydactyly 32 hallmark (90%) HP:0001156
19 anonychia 32 hallmark (90%) HP:0001798
20 broad nasal tip 32 hallmark (90%) HP:0000455
21 midface retrusion 32 hallmark (90%) HP:0011800
22 short distal phalanx of finger 32 hallmark (90%) HP:0009882
23 aplasia/hypoplasia of the eyebrow 32 hallmark (90%) HP:0100840
24 camptodactyly of finger 32 hallmark (90%) HP:0100490
25 bifid scrotum 32 occasional (7.5%) HP:0000048
26 brushfield spots 32 hallmark (90%) HP:0001088
27 dimple on nasal tip 32 hallmark (90%) HP:0004132
28 eyelid coloboma 32 hallmark (90%) HP:0000625

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:

41
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

Biological processes related to Acrofrontofacionasal Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic skeletal system morphogenesis GO:0048704 8.62 ALX3 SATB2

Sources for Acrofrontofacionasal Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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