MCID: ACR104
MIFTS: 27

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 58
Acrofacial Dysostosis Rodriguez Type 12 54 45 15 74
Rodriguez Lethal Acrofacial Dysostosis Syndrome 58 54
Acrofacial Dysostosis, Syndrome of Rodriguez 12
Acrofacial Dysostosis, Rodríguez Type 60

Characteristics:

Orphanet epidemiological data:

60
acrofacial dysostosis, rodríguez type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
acrofacial dysostosis syndrome of rodriguez:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrofacial Dysostosis Syndrome of Rodriguez

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1788Disease definitionAcrofacial dysostosis Rodriguez type is a 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.Visit the Orphanet disease page for more resources.

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 heart, lung and bone, and related phenotypes are malar flattening and microtia

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.

Description 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 10.6
2 dysostosis 10.6

Symptoms & Phenotypes for Acrofacial Dysostosis Syndrome of Rodriguez

Human phenotypes related to Acrofacial Dysostosis Syndrome of Rodriguez:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
4 microretrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000308
5 hand oligodactyly 33 hallmark (90%) HP:0001180
6 aqueductal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002410
7 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
8 arrhinencephaly 60 33 frequent (33%) Frequent (79-30%) HP:0002139
9 abnormality of pelvic girdle bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002644
10 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
11 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
12 aplasia/hypoplasia of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0006495
13 fibular hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003038
14 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
15 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
16 abnormal form of the vertebral bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003312
17 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
18 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
19 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
20 abnormality of the uterus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000130
21 hypertelorism 33 HP:0000316
22 low-set ears 33 HP:0000369
23 clinodactyly 33 HP:0030084
24 wide nasal bridge 33 HP:0000431
25 short stature 33 HP:0004322
26 micrognathia 33 HP:0000347
27 malformation of the heart and great vessels 60 Frequent (79-30%)
28 thin skin 33 HP:0000963
29 short philtrum 33 HP:0000322
30 deeply set eye 33 HP:0000490
31 narrow mouth 33 HP:0000160
32 wide anterior fontanel 33 HP:0000260
33 triphalangeal thumb 33 HP:0001199
34 oligodactyly 33 HP:0012165
35 prominent nose 33 HP:0000448
36 single transverse palmar crease 33 HP:0000954
37 deep-set nails 33 HP:0001814
38 oligodactyly (hands) 60 Very frequent (99-80%)
39 posteriorly rotated ears 33 HP:0000358
40 11 pairs of ribs 33 HP:0000878
41 short tibia 33 HP:0005736
42 overlapping toe 33 HP:0001845
43 absent forearm 33 HP:0005632

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
deep-set eyes
hypoplastic supra-orbital ridges

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

Head And Neck Nose:
prominent nose
broad nasal root

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Head And Neck Head:
large anterior fontanel

Head And Neck Face:
short forehead
hypoplastic malar area

Skeletal Pelvis:
hypoplastic pelvic girdle

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

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

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

Skeletal Spine:
coronal cleft in c2-c5

Clinical features from OMIM:

201170

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:

42
Heart, Lung, Bone, Uterus, Eye, Skin

Publications for Acrofacial Dysostosis Syndrome of Rodriguez

Articles related to Acrofacial Dysostosis Syndrome of Rodriguez:

# Title Authors Year
1
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
2
Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia. ( 19674374 )
2009

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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