MCID: ACR104
MIFTS: 27

Acrofacial Dysostosis Syndrome of Rodriguez

Categories: Rare diseases, Neuronal diseases, Bone diseases, Fetal 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 53 44 15 73
Rodriguez Lethal Acrofacial Dysostosis Syndrome 57 53
Acrofacial Dysostosis, Syndrome of Rodriguez 12
Acrofacial Dysostosis, Rodríguez Type 59

Characteristics:

Orphanet epidemiological data:

59
acrofacial dysostosis, rodríguez type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acrofacial dysostosis syndrome of rodriguez:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrofacial Dysostosis Syndrome of Rodriguez

NIH Rare Diseases : 53 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 bone, uterus and heart, and related phenotypes are abnormality of the uterus and malar flattening

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 10.4
2 dysostosis 10.4

Symptoms & Phenotypes for Acrofacial Dysostosis Syndrome of Rodriguez

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
deep-set eyes
hypoplastic supra-orbital ridges

Head And Neck Mouth:
micrognathia
short philtrum
microstomia
high arch palate

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

Human phenotypes related to Acrofacial Dysostosis Syndrome of Rodriguez:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
2 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
3 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
4 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
5 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
6 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
7 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
8 arrhinencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0002139
9 aqueductal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002410
10 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
11 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
12 fibular hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003038
13 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
14 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
15 aplasia/hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0006495
16 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
17 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
18 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
19 oligodactyly (hands) 59 Very frequent (99-80%)
20 malformation of the heart and great vessels 59 Frequent (79-30%)
21 narrow mouth 32 HP:0000160
22 wide anterior fontanel 32 HP:0000260
23 hypertelorism 32 HP:0000316
24 short philtrum 32 HP:0000322
25 micrognathia 32 HP:0000347
26 posteriorly rotated ears 32 HP:0000358
27 low-set ears 32 HP:0000369
28 wide nasal bridge 32 HP:0000431
29 prominent nose 32 HP:0000448
30 deeply set eye 32 HP:0000490
31 11 pairs of ribs 32 HP:0000878
32 single transverse palmar crease 32 HP:0000954
33 thin skin 32 HP:0000963
34 triphalangeal thumb 32 HP:0001199
35 deep-set nails 32 HP:0001814
36 overlapping toe 32 HP:0001845
37 short stature 32 HP:0004322
38 absent forearm 32 HP:0005632
39 short tibia 32 HP:0005736
40 oligodactyly 32 HP:0012165
41 hand oligodactyly 32 hallmark (90%) HP:0001180
42 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680

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:

41
Bone, Uterus, Heart, Lung, 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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