Acro-renal-mandibular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ACRORENAL-UTERINE-MANDIBULAR SYNDROME
SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA
ARUMS
Split hand/split foot - mandibular hypoplasia
Number of Symptoms 81
OrphanetNr: 958
OMIM Id: 200980
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000104) Renal agenesis 68 / 7739
2
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
3
 (HPO:0000069) Abnormality of the ureter 47 / 7739
4
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
 (HPO:0003762) Uterus didelphys 8 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
7
 (HPO:0000813) Bicornuate uterus 22 / 7739
8
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
9
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
10
 (HPO:0000189) Narrow palate 45 / 7739
11
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
12
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
13
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
14
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
15
 (HPO:0000275) Narrow face Occasional [Orphanet] 76 / 7739
16
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
19
 (HPO:0000286) Epicanthus 371 / 7739
20
 (HPO:0000218) High palate 356 / 7739
21
 (HPO:0000268) Dolichocephaly 144 / 7739
22
 (HPO:0004408) Abnormality of the sense of smell Frequent [Orphanet] 28 / 7739
23
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
24
 (HPO:0000369) Low-set ears 372 / 7739
25
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
26
 (HPO:0002561) Absent nipple 12 / 7739
27
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
28
 (HPO:0001839) Split foot Very frequent [Orphanet] 28 / 7739
29
 (HPO:0004060) Trident hand Very frequent [Orphanet] 13 / 7739
30
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
31
 (HPO:0010442) Polydactyly 69 / 7739
32
 (HPO:0000883) Thin ribs 31 / 7739
33
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
34
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
35
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
36
 (HPO:0002937) Hemivertebrae 41 / 7739
37
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
38
 (HPO:0001770) Toe syndactyly 149 / 7739
39
 (HPO:0006426) Rudimentary to absent tibiae 1 / 7739
40
 (HPO:0008468) Abnormal sacral segmentation 2 / 7739
41
 (HPO:0000921) Missing ribs 62 / 7739
42
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
43
 (HPO:0002987) Elbow flexion contracture 64 / 7739
44
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
45
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
46
 (HPO:0003316) Butterfly vertebrae 6 / 7739
47
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
48
 (HPO:0000774) Narrow chest 167 / 7739
49
 (HPO:0001159) Syndactyly 140 / 7739
50
 (HPO:0002751) Kyphoscoliosis 131 / 7739
51
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
52
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
53
 (HPO:0001161) Hand polydactyly 71 / 7739
54
 (HPO:0001171) Split hand 72 / 7739
55
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
56
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
57
 (HPO:0002827) Hip dislocation 94 / 7739
58
 (HPO:0001829) Foot polydactyly 41 / 7739
59
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
60
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
61
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
62
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
63
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
64
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
65
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
66
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
67
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
68
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
69
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
70
 (OMIM) Athelia 2 / 7739
71
 (OMIM) Absent ureters 1 / 7739
72
 (OMIM) Unicornuate uterus 3 / 7739
73
 (OMIM) Single fallopian tube 1 / 7739
74
 (HPO:0006381) Rudimentary fibula 4 / 7739
75
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
76
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
77
 (OMIM) Severe micrognathia 3 / 7739
78
 (OMIM) Aberrant origin vertebral artery 1 / 7739
79
 (OMIM) Absent olfactory bulbs and tracts 2 / 7739
80
 (OMIM) Absent bladder 1 / 7739
81
 (OMIM) Irregular, thin ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: