Acrofacial Dysostosis 1, Nager Type malady

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

Aliases & Classifications for Acrofacial Dysostosis 1, Nager Type

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49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 67UniProtKB/Swiss-Prot, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 49 10 11 45 22 23 67
Nager Syndrome 10 45 22 23 51 67 24 65
Nager Acrofacial Dysostosis 10 45 22 23 12 51 67
Preaxial Acrofacial Dysostosis 10 45 23
Afd1 22 23 67
Nager Acrofacial Dysostosis Syndrome 45 23
Nafd 23 51
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 45
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 67
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 51
Split Hand Deformity-Mandibulofacial Dysostosis 45
Preaxial Mandibulofacial Dysostosis 23
Preaxial Manibulofacial Dysostosis 10
Preaxial Acrodysostosis 51
Acrofacial Dysostosis 1 22
Afd, Nager Type 45
Afd Nager Type 67
Afd 10


Orphanet epidemiological data:

nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


acrofacial dysostosis 1, nager type:
Inheritance: autosomal dominant inheritance


External Ids:

OMIM49 154400
Disease Ontology10 DOID:5768
NCIt42 C35795
Orphanet51 245
ICD10 via Orphanet28 Q75.4
MESH via Orphanet37 C538184
UMLS via Orphanet66 C0265245
MedGen34 C0265245
MeSH36 D008342
UMLS65 C1332140, C0265245

Summaries for Acrofacial Dysostosis 1, Nager Type

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OMIM:49 Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs),... (154400) more...

MalaCards based summary: Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to acrofacial dysostosis palagonia type and acrofacial dysostosis, and has symptoms including hypoplasia of the zygomatic bone, skeletal dysplasia and neurological speech impairment. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4). Affiliated tissues include bone, kidney and eye.

Disease Ontology:10 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.

Genetics Home Reference:23 Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.

NIH Rare Diseases:45 Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. the signs and symptoms of nager acrofacial dysostosis vary among affected individuals, even among those in the same family. treatment is tailored to the individual based upon their specific needs. this condition is caused by mutations in the sf3b4 gene. while most cases are sporadic (occurring in families with no prior history of the disorder), autosomal dominant and autosomal recessive inheritance have been reported. last updated: 2/25/2014

UniProtKB/Swiss-Prot:67 Acrofacial dysostosis 1, Nager type: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.

Wikipedia:68 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...

Related Diseases for Acrofacial Dysostosis 1, Nager Type

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Graphical network of diseases related to Acrofacial Dysostosis 1, Nager Type:

Diseases related to acrofacial dysostosis 1, nager type

Symptoms for Acrofacial Dysostosis 1, Nager Type

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 51 (show all 30)
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hearing loss/hypoacusia/deafness
  • thumb hypoplasia/aplasia/absence
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • coloboma of the eyelid
  • long/large/bulbous nose
  • macrostomia/big mouth
  • palate anomalies
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • radioulnar synostosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • restricted joint mobility/joint stiffness/ankylosis
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • low set ears/posteriorly rotated ears
  • phocomelia
  • fingerlike/triphalangeal thumb
  • lower limb segmental anomalies
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys

HPO human phenotypes related to Acrofacial Dysostosis 1, Nager Type:

(show all 77)
id Description Frequency HPO Source Accession
1 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
2 skeletal dysplasia hallmark (90%) HP:0002652
3 neurological speech impairment hallmark (90%) HP:0002167
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 hearing impairment hallmark (90%) HP:0000365
6 micrognathia hallmark (90%) HP:0000347
7 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
8 aplasia/hypoplasia of the radius typical (50%) HP:0006501
9 abnormal nasal morphology typical (50%) HP:0005105
10 radioulnar synostosis typical (50%) HP:0002974
11 respiratory insufficiency typical (50%) HP:0002093
12 limitation of joint mobility typical (50%) HP:0001376
13 cleft eyelid typical (50%) HP:0000625
14 ptosis typical (50%) HP:0000508
15 atresia of the external auditory canal typical (50%) HP:0000413
16 cleft palate typical (50%) HP:0000175
17 wide mouth typical (50%) HP:0000154
18 non-midline cleft lip occasional (7.5%) HP:0100335
19 phocomelia occasional (7.5%) HP:0009829
20 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
21 triphalangeal thumb occasional (7.5%) HP:0001199
22 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
23 patent ductus arteriosus rare (5%) HP:0001643
24 ventricular septal defect rare (5%) HP:0001629
25 clinodactyly HP:0030084
26 midface retrusion HP:0011800
27 broad hallux HP:0010055
28 absent thumb HP:0009777
29 aplasia/hypoplasia of the thumb HP:0009601
30 radial deviation of finger HP:0009466
31 laryngeal hypoplasia HP:0008749
32 sparse lower eyelashes HP:0007776
33 hypoplasia of first ribs HP:0006657
34 hypoplasia of the epiglottis HP:0005349
35 short stature HP:0004322
36 absent radius HP:0003974
37 abnormality of the cervical spine HP:0003319
38 hypoplasia of the radius HP:0002984
39 radioulnar synostosis HP:0002974
40 hip dislocation HP:0002827
41 scoliosis HP:0002650
42 aqueductal stenosis HP:0002410
43 aganglionic megacolon HP:0002251
44 polymicrogyria HP:0002126
45 oligodactyly (feet) HP:0001849
46 overlapping toe HP:0001845
47 short toe HP:0001831
48 hallux valgus HP:0001822
49 toe syndactyly HP:0001770
50 talipes equinovarus HP:0001762
51 tetralogy of fallot HP:0001636
52 premature birth HP:0001622
53 gastroschisis HP:0001543
54 limited elbow extension HP:0001377
55 triphalangeal thumb HP:0001199
56 urticaria HP:0001025
57 bicornuate uterus HP:0000813
58 delayed speech and language development HP:0000750
59 lower eyelid coloboma HP:0000652
60 downslanted palpebral fissures HP:0000494
61 prominent nasal bridge HP:0000426
62 atresia of the external auditory canal HP:0000413
63 conductive hearing impairment HP:0000405
64 preauricular skin tag HP:0000384
65 low-set ears HP:0000369
66 posteriorly rotated ears HP:0000358
67 micrognathia HP:0000347
68 retrognathia HP:0000278
69 malar flattening HP:0000272
70 microcephaly HP:0000252
71 hydrocephalus HP:0000238
72 velopharyngeal insufficiency HP:0000220
73 trismus HP:0000211
74 cleft upper lip HP:0000204
75 cleft palate HP:0000175
76 wide mouth HP:0000154
77 unilateral renal agenesis HP:0000122

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Acrofacial Dysostosis 1, Nager Type

Genetic Tests for Acrofacial Dysostosis 1, Nager Type

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Genetic tests related to Acrofacial Dysostosis 1, Nager Type:

id Genetic test Affiliating Genes
1 Nager Syndrome22 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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MalaCards organs/tissues related to Acrofacial Dysostosis 1, Nager Type:

Bone, Kidney, Eye, Lung, Skin, Prostate, Uterus

Animal Models for Acrofacial Dysostosis 1, Nager Type or affiliated genes

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MGI Mouse Phenotypes related to Acrofacial Dysostosis 1, Nager Type:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Acrofacial Dysostosis 1, Nager Type

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Variations for Acrofacial Dysostosis 1, Nager Type

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Clinvar genetic disease variations for Acrofacial Dysostosis 1, Nager Type:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1SF3B4NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs)deletionPathogenicrs797045121GRCh37Chr 1, 149895451: 149895457
2SF3B4NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs)deletionPathogenicrs797045122GRCh37Chr 1, 149895477: 149895477
3SF3B4NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs)deletionPathogenicrs797045123GRCh37Chr 1, 149895510: 149895510
4SF3B4NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs)duplicationPathogenicrs797045124GRCh37Chr 1, 149895561: 149895561
5SF3B4NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs)duplicationPathogenicrs782357237GRCh37Chr 1, 149895760: 149895760
6SF3B4NM_005850.4(SF3B4): c.864delT (p.His288Glnfs)deletionPathogenicrs797045126GRCh37Chr 1, 149897777: 149897777
7SF3B4NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs)insertionPathogenicrs797045127GRCh37Chr 1, 149897804: 149897805
8SF3B4NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs)duplicationPathogenicrs797045128GRCh37Chr 1, 149897814: 149897814
9SF3B4NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs)duplicationPathogenicrs797045129GRCh37Chr 1, 149897845: 149897845
10SF3B4NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs)deletionPathogenicrs797045130GRCh37Chr 1, 149897872: 149897872
11SF3B4NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs)duplicationPathogenicrs797045131GRCh37Chr 1, 149898310: 149898313
12SF3B4NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter)single nucleotide variantPathogenicrs797045132GRCh38Chr 1, 149926457: 149926457
13SF3B4NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter)single nucleotide variantPathogenicrs797045133GRCh37Chr 1, 149898522: 149898522
14SF3B4NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs)deletionPathogenicrs797045134GRCh37Chr 1, 149899133: 149899133
15SF3B4NM_005850.4(SF3B4): c.1230_1249del20 (p.Pro411Thrfs)deletionPathogenicrs797045954GRCh37Chr 1, 149895460: 149895479
16SF3B4NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter)single nucleotide variantPathogenicrs797045955GRCh37Chr 1, 149898781: 149898781
17SF3B4NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs)deletionPathogenicrs797045956GRCh37Chr 1, 149899175: 149899176
18SF3B4NM_005850.4(SF3B4): c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs)deletionPathogenicrs797045957GRCh38Chr 1, 149926006: 149926018
19SF3B4NM_005850.4(SF3B4): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs387907185GRCh37Chr 1, 149899651: 149899651
20SF3B4NM_005850.4(SF3B4): c.1147dupC (p.His383Profs)duplicationPathogenicrs387907186GRCh37Chr 1, 149895562: 149895562
21SF3B4NM_005850.4(SF3B4): c.1147delC (p.His383Metfs)deletionPathogenicrs387907187GRCh37Chr 1, 149895562: 149895562
22SF3B4NM_005850.4(SF3B4): c.913+1G> Asingle nucleotide variantPathogenicrs797045125GRCh37Chr 1, 149897727: 149897727
23SF3B4NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter)single nucleotide variantPathogenicrs397515324GRCh37Chr 1, 149895814: 149895814

Expression for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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Search GEO for disease gene expression data for Acrofacial Dysostosis 1, Nager Type.

Pathways for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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GO Terms for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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Biological processes related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA splicing, via transesterification reactionsGO:00003759.9SF3B4, TXNL4A

Sources for Acrofacial Dysostosis 1, Nager Type

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet