Roberts syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SC phocomelia
Roberts-SC phocomelia syndrome
SC pseudothalidomide syndrome
Pseudothalidomide syndrome
Number of Symptoms 97
OrphanetNr: 3103
OMIM Id: 268300
269000
ICD-10: Q73.8
UMLs: C0392475
MeSH: C535687
MedDRA:
Snomed: 48718006

Prevalence, inheritance and age of onset:

Prevalence: < 150 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Musculoskeletal disease with cataract
 -Rare eye disease
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000085) Horseshoe kidney 39 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000057) Clitoromegaly 30 / 7739
6
 (HPO:0000813) Bicornuate uterus 22 / 7739
7
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
8
 (HPO:0008683) Enlarged labia minora 2 / 7739
9
 (HPO:0000028) Cryptorchidism 347 / 7739
10
 (HPO:0000040) Long penis Frequent [Orphanet] 17 / 7739
11
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
12
 (HPO:0000476) Cystic hygroma 22 / 7739
13
 (HPO:0007452) Midface capillary hemangioma 4 / 7739
14
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
15
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
16
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
19
 (HPO:0000204) Cleft upper lip 193 / 7739
20
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
21
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
22
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
23
 (HPO:0009933) Narrow naris 16 / 7739
24
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
25
 (HPO:0007330) Frontal encephalocele 3 / 7739
26
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
27
 (HPO:0000625) Cleft eyelid 31 / 7739
28
 (HPO:0000218) High palate 356 / 7739
29
 (HPO:0000568) Microphthalmia 183 / 7739
30
 (HPO:0000347) Micrognathia 426 / 7739
31
 (HPO:0000175) Cleft palate 349 / 7739
32
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
33
 (HPO:0009891) Underdeveloped supraorbital ridges Frequent [Orphanet] 36 / 7739
34
 (HPO:0000586) Shallow orbits 23 / 7739
35
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
36
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
37
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
38
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
39
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
40
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
41
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
42
 (HPO:0000369) Low-set ears 372 / 7739
43
 (HPO:0000387) Absent earlobe 5 / 7739
44
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
45
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
46
 (HPO:0001249) Intellectual disability 1089 / 7739
47
 (HPO:0006824) Cranial nerve paralysis 81 / 7739
48
 (HPO:0001159) Syndactyly 140 / 7739
49
 (HPO:0001239) Wrist flexion contracture 13 / 7739
50
 (HPO:0001163) Abnormality of the metacarpal bones 149 / 7739
51
 (HPO:0009466) Radial deviation of finger 101 / 7739
52
 (HPO:0009829) Phocomelia Very frequent [Orphanet] 20 / 7739
53
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
54
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
55
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
56
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
57
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
58
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
59
 (HPO:0002987) Elbow flexion contracture 64 / 7739
60
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
61
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
62
 (HPO:0006380) Knee flexion contracture 56 / 7739
63
 (HPO:0001772) Talipes equinovalgus 7 / 7739
64
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
65
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
66
 (HPO:0006466) Ankle contracture 17 / 7739
67
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
68
 (HPO:0001180) Hand oligodactyly 17 / 7739
69
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
70
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
71
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
72
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
73
 (HPO:0001747) Accessory spleen 8 / 7739
74
 (HPO:0001080) Biliary tract abnormality 26 / 7739
75
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
76
 (HPO:0008846) Severe intrauterine growth retardation 5 / 7739
77
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
78
 (HPO:0008897) Postnatal growth retardation 113 / 7739
79
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
80
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
81
 (HPO:0008070) Sparse hair 94 / 7739
82
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
83
 (HPO:0001631) Atria septal defect 274 / 7739
84
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
85
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
86
 (HPO:0001629) Ventricular septal defect 316 / 7739
87
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
88
 (HPO:0003616) Premature separation of centromeric heterochromatin 3 / 7739
89
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
90
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
91
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
92
 (HPO:0000238) Hydrocephalus 278 / 7739
93
 (HPO:0003826) Stillbirth Occasional [HPO:probinson] 40 / 7739
94
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
95
 (HPO:0030084) Clinodactyly 90 / 7739
96
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
97
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: