MCID: ACR104
MIFTS: 26

Acrofacial Dysostosis Syndrome of Rodriguez

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Acrofacial Dysostosis Syndrome of Rodriguez

MalaCards integrated aliases for Acrofacial Dysostosis Syndrome of Rodriguez:

Name: Acrofacial Dysostosis Syndrome of Rodriguez 57
Acrofacial Dysostosis Rodriguez Type 12 20 44 15 70
Rodriguez Lethal Acrofacial Dysostosis Syndrome 57 20
Acrofacial Dysostosis, Syndrome of Rodriguez 12
Acrofacial Dysostosis, Rodriguez Type 58

Characteristics:

Orphanet epidemiological data:

58
acrofacial dysostosis, rodriguez type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
acrofacial dysostosis syndrome of rodriguez:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060383
OMIM® 57 201170
MeSH 44 C538183
SNOMED-CT 67 720430002
MESH via Orphanet 45 C538183
ICD10 via Orphanet 33 Q75.4
UMLS via Orphanet 71 C1860119
Orphanet 58 ORPHA1788
MedGen 41 C1860119
UMLS 70 C1860119

Summaries for Acrofacial Dysostosis Syndrome of Rodriguez

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1788 Definition A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

MalaCards based summary : Acrofacial Dysostosis Syndrome of Rodriguez, also known as acrofacial dysostosis rodriguez type, is related to acrofacial dysostosis and dysostosis. An important gene associated with Acrofacial Dysostosis Syndrome of Rodriguez is SF3B4 (Splicing Factor 3b Subunit 4). Affiliated tissues include lung, uterus and bone, and related phenotypes are microtia and malar flattening

Disease Ontology : 12 An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has material basis in autosomal recessive inheritance.

More information from OMIM: 201170

Related Diseases for Acrofacial Dysostosis Syndrome of Rodriguez

Diseases related to Acrofacial Dysostosis Syndrome of Rodriguez via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 10.5
2 dysostosis 10.5

Symptoms & Phenotypes for Acrofacial Dysostosis Syndrome of Rodriguez

Human phenotypes related to Acrofacial Dysostosis Syndrome of Rodriguez:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
4 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
5 hand oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001180
6 aqueductal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002410
7 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
8 arrhinencephaly 58 31 frequent (33%) Frequent (79-30%) HP:0002139
9 abnormality of pelvic girdle bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002644
10 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
11 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
12 aplasia/hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0006495
13 fibular hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003038
14 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
15 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
16 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
17 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
18 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
19 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
20 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
21 high palate 31 HP:0000218
22 hypertelorism 31 HP:0000316
23 wide nasal bridge 31 HP:0000431
24 short stature 31 HP:0004322
25 malformation of the heart and great vessels 58 Frequent (79-30%)
26 micrognathia 31 HP:0000347
27 low-set ears 31 HP:0000369
28 narrow mouth 31 HP:0000160
29 deeply set eye 31 HP:0000490
30 short philtrum 31 HP:0000322
31 wide anterior fontanel 31 HP:0000260
32 triphalangeal thumb 31 HP:0001199
33 oligodactyly 31 HP:0012165
34 single transverse palmar crease 31 HP:0000954
35 posteriorly rotated ears 31 HP:0000358
36 prominent nose 31 HP:0000448
37 deep-set nails 31 HP:0001814
38 11 pairs of ribs 31 HP:0000878
39 short tibia 31 HP:0005736
40 thin skin 31 HP:0000963
41 clinodactyly 31 HP:0030084
42 overlapping toe 31 HP:0001845
43 absent forearm 31 HP:0005632

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
deep-set eyes
hypoplastic supra-orbital ridges

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small auricles
absent external auditory meatus

Head And Neck Nose:
prominent nose
broad nasal root

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Skeletal Feet:
overlapping toes
equinovarus
hypoplasia of the distal phalanx of the 5th toe
valgus

Head And Neck Face:
short forehead
hypoplastic malar area

Skeletal Pelvis:
hypoplastic pelvic girdle

Head And Neck Mouth:
micrognathia
short philtrum
high-arched palate
microstomia

Skeletal Hands:
oligodactyly
triphalangeal thumbs
single palmar creases
wide space between the thumbs and the 2nd fingers
clinodactyly of the 1st finger
more
Skin Nails Hair Nails:
deep-set nails

Skeletal Limbs:
short tibia
short fibula
absent forearms
short proximal arms

Head And Neck Head:
large anterior fontanel

Skeletal Spine:
coronal cleft in c2-c5

Clinical features from OMIM®:

201170 (Updated 05-Apr-2021)

Drugs & Therapeutics for Acrofacial Dysostosis Syndrome of Rodriguez

Search Clinical Trials , NIH Clinical Center for Acrofacial Dysostosis Syndrome of Rodriguez

Cochrane evidence based reviews: acrofacial dysostosis rodriguez type

Genetic Tests for Acrofacial Dysostosis Syndrome of Rodriguez

Anatomical Context for Acrofacial Dysostosis Syndrome of Rodriguez

MalaCards organs/tissues related to Acrofacial Dysostosis Syndrome of Rodriguez:

40
Lung, Uterus, Bone, Eye, Heart

Publications for Acrofacial Dysostosis Syndrome of Rodriguez

Articles related to Acrofacial Dysostosis Syndrome of Rodriguez:

# Title Authors PMID Year
1
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. 57
18000904 2007
2
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. 57
12400073 2002
3
New lethal acrofacial dysostosis syndrome. 57
1536191 1992
4
Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome. 57
1536176 1992
5
New lethal acrofacial dysostosis syndrome. 57
1822088 1991
6
New acrofacial dysostosis syndrome in 3 sibs. 57
2333875 1990
7
The Nager syndrome. 57
3321996 1987
8
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
9
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 61
27642715 2016

Variations for Acrofacial Dysostosis Syndrome of Rodriguez

Expression for Acrofacial Dysostosis Syndrome of Rodriguez

Search GEO for disease gene expression data for Acrofacial Dysostosis Syndrome of Rodriguez.

Pathways for Acrofacial Dysostosis Syndrome of Rodriguez

GO Terms for Acrofacial Dysostosis Syndrome of Rodriguez

Sources for Acrofacial Dysostosis Syndrome of Rodriguez

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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