MCID: ACR093
MIFTS: 28

Acrofrontofacionasal Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Acrofrontofacionasal Dysostosis

MalaCards integrated aliases for Acrofrontofacionasal Dysostosis:

Name: Acrofrontofacionasal Dysostosis 11 58 75 14
Acrofrontofacionasal Dysostosis Syndrome 19 43 71
Richieri-Costa-Colletto Syndrome 11 58
Cleft Lip/palate with Frontonasal Dysostosis and Postaxial Polysyndactyly 19
Polysyndactyly, Postaxial, Frontonasal Dysostosis and Cleft Lip/palate 19
Acro Fronto Facio Nasal Dysostosis 19
Affn Dysostosis 1 19
Affn Dysostosis 11

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060226
MeSH 43 C538186
SNOMED-CT 68 720408003
ICD10 via Orphanet 32 Q75.1
UMLS via Orphanet 72 C1860118
Orphanet 58 ORPHA1784
UMLS 71 C1860118

Summaries for Acrofrontofacionasal Dysostosis

Disease Ontology: 11 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.

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 bone and skin, and related phenotypes are ptosis and high palate

GARD: 19 A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Orphanet: 58 A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Wikipedia: 75 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:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
2 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
5 broad thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011304
6 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
7 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
8 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000175
9 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
10 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
11 eyelid coloboma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000625
12 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
13 hypopigmented skin patches 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001053
14 broad forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000337
15 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
16 short distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009882
17 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
18 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
19 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
20 brushfield spots 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001088
21 non-midline cleft lip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100335
22 broad nasal tip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000455
23 anonychia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001798
24 dimple on nasal tip 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004132
25 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
26 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000232
27 bifid scrotum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000048
28 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
29 abnormality of epiphysis morphology 58 Very frequent (99-80%)
30 abnormality of the genitourinary system 58 Occasional (29-5%)

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

Organs/tissues related to Acrofrontofacionasal Dysostosis:

MalaCards : Bone, Skin

Publications for Acrofrontofacionasal Dysostosis

Articles related to Acrofrontofacionasal Dysostosis:

# Title Authors PMID Year
1
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. 62
34400385 2021
2
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. 62
29929043 2018
3
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management. 62
26451378 2015
4
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 62
22052670 2011
5
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. 62
18553510 2008
6
Acrofrontofacionasal dysostosis: report of the third Brazilian family. 62
12749073 2003
7
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? 62
10327243 1999
8
Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family. 62
1481850 1992
9
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. 62
2750779 1989
10
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. 62
2986457 1985

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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