MCID: ACR093
MIFTS: 25

Acrofrontofacionasal Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrofrontofacionasal Dysostosis

MalaCards integrated aliases for Acrofrontofacionasal Dysostosis:

Name: Acrofrontofacionasal Dysostosis 12 73 15
Acrofrontofacionasal Dysostosis Syndrome 20 44 70
Cleft Lip/palate with Frontonasal Dysostosis and Postaxial Polysyndactyly 20
Polysyndactyly, Postaxial, Frontonasal Dysostosis and Cleft Lip/palate 20
Acro Fronto Facio Nasal Dysostosis 20
Richieri-Costa-Colletto Syndrome 12
Affn Dysostosis 1 20
Affn Dysostosis 12

Classifications:



Summaries for Acrofrontofacionasal Dysostosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1784 Definition A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Epidemiology Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil. Clinical description The 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. Etiology The etiology of acro-fronto-facio-nasal dysostosis is unknown. Genetic counseling Autosomal recessive transmission is probable.

MalaCards based summary : Acrofrontofacionasal Dysostosis, also known as acrofrontofacionasal dysostosis syndrome, is related to acrofrontofacionasal dysostosis 2 and acrofrontofacionasal dysostosis 1. An important gene associated with Acrofrontofacionasal Dysostosis is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include eye, and related phenotypes are ptosis and high palate

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 : 73 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:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 hallmark (90%) HP:0000508
2 high palate 31 hallmark (90%) HP:0000218
3 hypertelorism 31 hallmark (90%) HP:0000316
4 short stature 31 hallmark (90%) HP:0004322
5 broad thumb 31 hallmark (90%) HP:0011304
6 brachycephaly 31 hallmark (90%) HP:0000248
7 intellectual disability, severe 31 hallmark (90%) HP:0010864
8 cleft palate 31 hallmark (90%) HP:0000175
9 cerebral cortical atrophy 31 hallmark (90%) HP:0002120
10 downslanted palpebral fissures 31 hallmark (90%) HP:0000494
11 brachydactyly 31 hallmark (90%) HP:0001156
12 abnormality of epiphysis morphology 31 hallmark (90%) HP:0005930
13 hypopigmented skin patches 31 hallmark (90%) HP:0001053
14 broad forehead 31 hallmark (90%) HP:0000337
15 micromelia 31 hallmark (90%) HP:0002983
16 short distal phalanx of finger 31 hallmark (90%) HP:0009882
17 aplasia/hypoplasia of the eyebrow 31 hallmark (90%) HP:0100840
18 midface retrusion 31 hallmark (90%) HP:0011800
19 camptodactyly of finger 31 hallmark (90%) HP:0100490
20 brushfield spots 31 hallmark (90%) HP:0001088
21 non-midline cleft lip 31 hallmark (90%) HP:0100335
22 broad nasal tip 31 hallmark (90%) HP:0000455
23 anonychia 31 hallmark (90%) HP:0001798
24 dimple on nasal tip 31 hallmark (90%) HP:0004132
25 eyelid coloboma 31 hallmark (90%) HP:0000625
26 everted lower lip vermilion 31 frequent (33%) HP:0000232
27 bifid scrotum 31 occasional (7.5%) HP:0000048
28 hypospadias 31 occasional (7.5%) HP:0000047

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:

40
Eye

Publications for Acrofrontofacionasal Dysostosis

Articles related to Acrofrontofacionasal Dysostosis:

# Title Authors PMID Year
1
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. 61
29929043 2018
2
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management. 61
26451378 2015
3
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 61
22052670 2011
4
Acrofrontofacionasal dysostosis: report of the third Brazilian family. 61
12749073 2003
5
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? 61
10327243 1999

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

Sources for Acrofrontofacionasal Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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