MCID: ACR104
MIFTS: 27

Acrofacial Dysostosis Syndrome of Rodriguez

Categories: Bone diseases, Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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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 11 19 43 14 71
Rodriguez Lethal Acrofacial Dysostosis Syndrome 57 19
Acrofacial Dysostosis, Syndrome of Rodriguez 11
Acrofacial Dysostosis, Rodriguez Type 58

Characteristics:


Inheritance:

Acrofacial Dysostosis Syndrome of Rodriguez: Autosomal recessive 57
Acrofacial Dysostosis, Rodriguez Type: Autosomal dominant,Autosomal recessive 58

Prevelance:

Acrofacial Dysostosis, Rodriguez Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Acrofacial Dysostosis, Rodriguez Type: Antenatal,Neonatal 58

Age Of Death:

Acrofacial Dysostosis, Rodriguez Type: embryofetal,stillbirth 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0060383
OMIM® 57 201170
MeSH 43 C538183
SNOMED-CT 68 720430002
MESH via Orphanet 44 C538183
ICD10 via Orphanet 32 Q75.4
UMLS via Orphanet 72 C1860119
Orphanet 58 ORPHA1788
MedGen 40 C1860119
UMLS 71 C1860119

Summaries for Acrofacial Dysostosis Syndrome of Rodriguez

GARD: 19 A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.

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

Orphanet: 58 A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.

Disease Ontology: 11 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 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008551
2 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
3 prominent nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000426
4 microretrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000308
5 hand oligodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001180
6 aqueductal stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002410
7 sprengel anomaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000912
8 arrhinencephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002139
9 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
10 aplasia/hypoplasia of the radius 58 30 Frequent (33%) Frequent (79-30%)
HP:0006501
11 aplasia/hypoplasia of the ulna 58 30 Frequent (33%) Frequent (79-30%)
HP:0006495
12 fibular hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003038
13 abnormality of cardiovascular system morphology 30 Frequent (33%) HP:0030680
14 abnormal pelvic girdle bone morphology 30 Frequent (33%) HP:0002644
15 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
16 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
17 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008678
18 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001762
19 abnormality of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000130
20 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
21 high palate 30 HP:0000218
22 hypertelorism 30 HP:0000316
23 wide nasal bridge 30 HP:0000431
24 short stature 30 HP:0004322
25 malformation of the heart and great vessels 58 Frequent (79-30%)
26 micrognathia 30 HP:0000347
27 low-set ears 30 HP:0000369
28 narrow mouth 30 HP:0000160
29 deeply set eye 30 HP:0000490
30 short philtrum 30 HP:0000322
31 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
32 wide anterior fontanel 30 HP:0000260
33 triphalangeal thumb 30 HP:0001199
34 oligodactyly 30 HP:0012165
35 single transverse palmar crease 30 HP:0000954
36 posteriorly rotated ears 30 HP:0000358
37 prominent nose 30 HP:0000448
38 deep-set nails 30 HP:0001814
39 11 pairs of ribs 30 HP:0000878
40 short tibia 30 HP:0005736
41 thin skin 30 HP:0000963
42 clinodactyly 30 HP:0030084
43 overlapping toe 30 HP:0001845
44 absent forearm 30 HP:0005632

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

Organs/tissues related to Acrofacial Dysostosis Syndrome of Rodriguez:

MalaCards : Bone, Lung, Heart, Uterus, Eye, Skin

Publications for Acrofacial Dysostosis Syndrome of Rodriguez

Articles related to Acrofacial Dysostosis Syndrome of Rodriguez:

(show all 11)
# 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. 62
30924273 2019
9
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 62
27642715 2016
10
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. 62
27590395 2016
11
Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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