AFD1
MCID: NGR001
MIFTS: 33

Nager Acrofacial Dysostosis (AFD1) malady

Eye, Bone, Fetal categories

Summaries for Nager Acrofacial Dysostosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 6/25/2012

MalaCards: Nager Acrofacial Dysostosis, also known as nager syndrome, is related to vacterl association and coloboma, and has symptoms including flat cheek bones/malar hypoplasia, low set ears/posteriorly rotated ears and ptosis. An important gene associated with Nager Acrofacial Dysostosis is SF3B4 (splicing factor 3b, subunit 4, 49kDa).

Genetics Home Reference:21 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.

Wikipedia:64 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...

Description from OMIM:47 154400

Aliases & Classifications for Nager Acrofacial Dysostosis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone


Characteristics (Orphanet epidemiological data):

49
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

nager acrofacial dysostosis 43 21 49
nager syndrome 43 20 22 21 49
acrofacial dysostosis 1, nager type 43 21 47
nager acrofacial dysostosis syndrome 43 21
nafd 21 49
mandibulofacial dysostosis, treacher collins type, with limb anomalies 43
mandibulofacial dysostosis with preaxial limb anomalies 49
preaxial mandibulofacial dysostosis 21
preaxial acrofacial dysostosis 21
preaxial acrodysostosis 49
afd, nager type 43
afd1 21


External Ids:

OMIM47 154400
MESH via Orphanet36 C538184
ICD10 via Orphanet26 Q75.4
SNOMED-CT via Orphanet58 35520007
UMLS via Orphanet62 C0265245
ICD1025 Q75.4

Related Diseases for Nager Acrofacial Dysostosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Nager Acrofacial Dysostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vacterl association10.4
2coloboma10.4
3murcs association10.4
4ankylosis10.1
5urticaria pigmentosa10.1
6urticaria10.1
7temporomandibular ankylosis10.1

Graphical network of diseases related to Nager Acrofacial Dysostosis:



Diseases related to nager acrofacial dysostosis

Clinical Features for Nager Acrofacial Dysostosis

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

154400

Clinical synopsis from OMIM:

154400

Symptoms:

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

Drugs & Therapeutics for Nager Acrofacial Dysostosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Search CenterWatch for Nager Acrofacial Dysostosis

Genetic Tests for Nager Acrofacial Dysostosis

Sources:
20GeneTests, 22GTR
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Genetic tests related to Nager Acrofacial Dysostosis:

id Genetic test Affiliating Genes
1 Nager Syndrome20 22 SF3B4

Anatomical Context for Nager Acrofacial Dysostosis

Animal Models for Nager Acrofacial Dysostosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Nager Acrofacial Dysostosis

Sources:
51PubMed
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Articles related to Nager Acrofacial Dysostosis:

(show all 37)
idTitleAuthorsYear
1
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. (23619484)
2013
2
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. (23913624)
2013
3
Limbal dermoid in Nager acrofacial dysostosis: A rare case report. (23619496)
2013
4
A case report: nager acrofacial dysostosis. (24303385)
2012
5
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. (18821720)
2008
6
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. (16877861)
2006
7
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. (17013486)
2006
8
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany. (16096996)
2005
9
Otologic and audiologic features of Nager acrofacial dysostosis. (16005346)
2005
10
Nager syndrome (preaxial acrofacial dysostosis): a case report. (15184856)
2004
11
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. (15266620)
2004
12
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. (10964304)
2000
13
A.B.R. in Nager type acrofacial dysostosis syndrome. (23119544)
1999
14
A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS). (12503193)
1997
15
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? (8779315)
1996
16
Nager acrofacial dysostosis. An adult male with severe neurological deficit. (8831135)
1996
17
Nager acrofacial dysostosis: management of a difficult airway. (8882111)
1996
18
Nager acrofacial dysostosis. (8411075)
1993
19
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. (8357008)
1993
20
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. (8357565)
1993
21
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. (8500258)
1993
22
Nager acrofacial dysostosis: male-to-male transmission in 2 families. (1951468)
1991
23
Nager's acrofacial dysostosis. Case report and review of the literature. (2089020)
1990
24
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. (2801774)
1989
25
Sonography of Nager acrofacial dysostosis syndrome in utero. (3280827)
1988
26
Autosomal recessive inheritance of Nager acrofacial dysostosis. (3367347)
1988
27
Nager acrofacial dysostosis: evidence for apparent heterogeneity. (3189396)
1988
28
Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of GenAce and Wiedemann. (3425605)
1987
29
Nager acrofacial dysostosis with cleft lip. (3437268)
1987
30
Acrofacial dysostosis of Nager and ocular abnormalities. (3097597)
1986
31
Anomalies in an infant with Nager acrofacial dysostosis. (4025401)
1985
32
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. (4078872)
1985
33
Nager's acrofacial dysostosis with thumb duplication: report of a case. (6478644)
1984
34
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. (6881198)
1983
35
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. (6837625)
1983
36
Nager acrofacial dysostosis: early intervention and long-term planning. (401476)
1977
37
Nager acrofacial dysostosis: report of a case. (874672)
1977

Genetic Variations for Nager Acrofacial Dysostosis

Expression for genes affiliated with Nager Acrofacial Dysostosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nager Acrofacial Dysostosis

Search GEO for disease gene expression data for Nager Acrofacial Dysostosis.

Pathways for genes affiliated with Nager Acrofacial Dysostosis

Compounds for genes affiliated with Nager Acrofacial Dysostosis

GO Terms for genes affiliated with Nager Acrofacial Dysostosis

Products for genes affiliated with Nager Acrofacial Dysostosis

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Sources for Nager Acrofacial Dysostosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet