ARUMS
MCID: ACR102
MIFTS: 28

Acrorenal-Mandibular Syndrome (ARUMS)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Acrorenal-Mandibular Syndrome

MalaCards integrated aliases for Acrorenal-Mandibular Syndrome:

Name: Acrorenal-Mandibular Syndrome 57
Acrorenal Mandibular Syndrome 53 73
Split-Hand and Split-Foot with Mandibular Hypoplasia 57
Split Hand/split Foot-Mandibular Hypoplasia Syndrome 59
Acrorenal-Uterine-Mandibular Syndrome; Arums 57
Split Hand Split Foot Mandibular Hypoplasia 53
Acro-Renal-Uterine-Mandibular Syndrome 53
Acrorenal-Uterine-Mandibular Syndrome 57
Acro-Renal-Mandibular Syndrome 59
Arums 57

Characteristics:

Orphanet epidemiological data:

59
acro-renal-mandibular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acrorenal-mandibular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrorenal-Mandibular Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 958Disease definitionAcro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrorenal-Mandibular Syndrome, also known as acrorenal mandibular syndrome, is related to polycystic kidney disease and kidney disease. Affiliated tissues include kidney, uterus and lung, and related phenotypes are short neck and finger syndactyly

Description from OMIM: 200980

Related Diseases for Acrorenal-Mandibular Syndrome

Diseases related to Acrorenal-Mandibular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 10.2
2 kidney disease 10.2

Symptoms & Phenotypes for Acrorenal-Mandibular Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Chest External Features:
narrow chest

Skeletal Hands:
split hand
syndactyly

Skeletal Spine:
hemivertebrae
butterfly vertebrae
kyphoscoliosis
abnormal sacral segmentation

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Internal Genitalia Female:
bicornuate uterus
uterus didelphys
septate uterus
unicornuate uterus
single fallopian tube

Skeletal Limbs:
rudimentary to absent tibiae
elbow flexion contractures
hypoplastic radii
hypoplastic ulnae
rudimentary to absent fibulae

Skeletal Skull:
hypoplastic mandible

Chest Breasts:
athelia

Head And Neck Face:
severe micrognathia

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Bladder:
absent bladder

Head And Neck Mouth:
narrow palate
high-arched palate

Skeletal Pelvis:
hip dislocation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
hypoplastic scapulae
irregular, thin ribs

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Skeletal Feet:
syndactyly
split foot
polydactyly

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
scaphocephaly

Growth Other:
intrauterine growth retardation (iugr)

Cardiovascular Vascular:
aberrant origin vertebral artery

Genitourinary Ureters:
absent ureters

Neurologic Peripheral Nervous System:
absent olfactory bulbs and tracts


Clinical features from OMIM:

200980

Human phenotypes related to Acrorenal-Mandibular Syndrome:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
9 renal hypoplasia/aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008678
10 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
11 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
12 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
13 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
14 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
15 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
16 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
17 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
18 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
19 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
20 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
21 abnormality of the sense of smell 59 32 frequent (33%) Frequent (79-30%) HP:0004408
22 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
23 butterfly vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0003316
24 hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0003022
25 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
26 aplasia/hypoplasia of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010295
27 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
28 pulmonary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002089
29 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101
30 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984
31 hypoplastic scapulae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000882
32 bicornuate uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000813
33 split foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001839
34 uterus didelphys 59 32 frequent (33%) Frequent (79-30%) HP:0003762
35 rudimentary fibula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006381
36 rudimentary to absent tibiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0006426
37 low-set ears 32 HP:0000369
38 narrow palate 32 HP:0000189
39 abnormality of the cardiovascular system 32 HP:0001626
40 narrow chest 32 HP:0000774
41 epicanthus 32 HP:0000286
42 dolichocephaly 32 HP:0000268
43 elbow flexion contracture 32 HP:0002987
44 polycystic kidney dysplasia 32 HP:0000113
45 hand polydactyly 32 HP:0001161
46 foot polydactyly 32 HP:0001829
47 cheekbone underdevelopment 59 Frequent (79-30%)
48 toe syndactyly 32 HP:0001770
49 abnormality of the ureter 32 HP:0000069
50 missing ribs 32 HP:0000921

Drugs & Therapeutics for Acrorenal-Mandibular Syndrome

Search Clinical Trials , NIH Clinical Center for Acrorenal-Mandibular Syndrome

Genetic Tests for Acrorenal-Mandibular Syndrome

Anatomical Context for Acrorenal-Mandibular Syndrome

MalaCards organs/tissues related to Acrorenal-Mandibular Syndrome:

41
Kidney, Uterus, Lung, Bone, Tongue, Breast, Olfactory Bulb

Publications for Acrorenal-Mandibular Syndrome

Articles related to Acrorenal-Mandibular Syndrome:

# Title Authors Year
1
Polycystic kidney disease in neonate with acrorenal mandibular syndrome. ( 25075450 )
2014
2
Acrorenal Mandibular Syndrome. ( 27408026 )
2007

Variations for Acrorenal-Mandibular Syndrome

Expression for Acrorenal-Mandibular Syndrome

Search GEO for disease gene expression data for Acrorenal-Mandibular Syndrome.

Pathways for Acrorenal-Mandibular Syndrome

GO Terms for Acrorenal-Mandibular Syndrome

Sources for Acrorenal-Mandibular Syndrome

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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