Autosomal dominant Robinow syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES
FETAL FACE SYNDROME
ROBINOW DWARFISM
DRS
Number of Symptoms 122
OrphanetNr: 3107
OMIM Id: 180700
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Robinow syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
3
 (HPO:0000075) Renal duplication 5 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
6
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
7
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
8
 (HPO:0000126) Hydronephrosis 119 / 7739
9
 (HPO:0000077) Abnormality of the kidney 73 / 7739
10
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
11
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
12
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
13
 (HPO:0010297) Bifid tongue Frequent [Orphanet] 39 % [HPO:skoehler] 17 / 7739
14
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
15
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
16
 (HPO:0010290) Short hard palate 5 / 7739
17
 (HPO:0000527) Long eyelashes 54 % [HPO:skoehler] 46 / 7739
18
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 37 % [HPO:skoehler] 185 / 7739
19
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 78 % [HPO:skoehler] 381 / 7739
20
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
21
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
22
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
23
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 83% [HPO:probinson] 305 / 7739
24
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
25
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
26
 (HPO:0003196) Short nose Very frequent [Orphanet] 83% [HPO:probinson] 264 / 7739
27
 (HPO:0000470) Short neck Occasional [Orphanet] 29 % [HPO:skoehler] 345 / 7739
28
 (HPO:0000219) Thin upper lip vermilion 50 % [HPO:skoehler] 112 / 7739
29
 (HPO:0000189) Narrow palate 46 % [HPO:skoehler] 45 / 7739
30
 (HPO:0000260) Wide anterior fontanel 55 / 7739
31
 (HPO:0000431) Wide nasal bridge 290 / 7739
32
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
33
 (HPO:0000929) Abnormality of the skull 53 / 7739
34
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 63 % [HPO:skoehler] 98 / 7739
35
 (HPO:0012368) Flat face 106 / 7739
36
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
37
 (HPO:0000278) Retrognathia 44 % [HPO:skoehler] 100 / 7739
38
 (HPO:0000212) Gingival overgrowth 43 / 7739
39
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
40
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
41
 (HPO:0002263) Exaggerated cupid's bow Occasional [Orphanet] 15 / 7739
42
 (HPO:0000637) Long palpebral fissure 21 / 7739
43
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
44
 (HPO:0000202) Oral cleft Frequent [Orphanet] 35 % [HPO:skoehler] 120 / 7739
45
 (HPO:0000158) Macroglossia 119 / 7739
46
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
47
 (HPO:0000286) Epicanthus Frequent [Orphanet] 39 % [HPO:skoehler] 371 / 7739
48
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
49
 (HPO:0000218) High palate 52 % [HPO:skoehler] 356 / 7739
50
 (HPO:0000678) Dental crowding 65 / 7739
51
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
52
 (HPO:0000207) Triangular mouth 8 / 7739
53
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
54
 (HPO:0011231) Prominent eyelashes 9 / 7739
55
 (HPO:0000347) Micrognathia 426 / 7739
56
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
57
 (HPO:0004482) Relative macrocephaly 44 / 7739
58
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
59
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
60
 (HPO:0000272) Malar flattening 277 / 7739
61
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
62
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
63
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
64
 (HPO:0000369) Low-set ears 28 % [HPO:skoehler] 372 / 7739
65
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
66
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
67
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
68
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
69
 (HPO:0001263) Global developmental delay 853 / 7739
70
 (HPO:0001249) Intellectual disability 1089 / 7739
71
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
72
 (HPO:0200055) Small hand 62 % [HPO:skoehler] 71 / 7739
73
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
74
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
75
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
76
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
77
 (HPO:0001853) Bifid distal phalanx of toe 3 / 7739
78
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
79
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
80
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
81
 (HPO:0009883) Duplication of the distal phalanx of hand 2 / 7739
82
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
83
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
84
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
85
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
86
 (HPO:0009466) Radial deviation of finger 101 / 7739
87
 (HPO:0008905) Rhizomelia 35 % [HPO:skoehler] 85 / 7739
88
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
89
 (HPO:0011304) Broad thumb 39 / 7739
90
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
91
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
92
 (HPO:0001837) Broad toe 13 / 7739
93
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
94
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
95
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
96
 (HPO:0000023) Inguinal hernia 181 / 7739
97
 (HPO:0001539) Omphalocele 102 / 7739
98
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
99
 (HPO:0001551) Abnormality of the umbilicus 4 / 7739
100
 (HPO:0004322) Short stature Frequent [Orphanet] 81% [HPO:skoehler] 1232 / 7739
101
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
102
 (HPO:0002164) Nail dysplasia 22 % [HPO:skoehler] 82 / 7739
103
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
104
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
105
 (HPO:0001705) Right ventricular outlet obstruction 2 / 7739
106
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
107
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
108
 (OMIM) Wide retromolar ridge 1 / 7739
109
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
110
 (HPO:0001355) Megalencephaly 39 / 7739
111
 (OMIM) Abnormal uvula 2 / 7739
112
 (HPO:0012905) Euryblepharon Frequent [Orphanet] 12 / 7739
113
 (MedDRA:10058668) Clinodactyly 91 / 7739
114
 (OMIM) Flat palate 1 / 7739
115
 (OMIM) Short upturned nose 6 / 7739
116
 (OMIM) Infranumerary teeth (16%) 1 / 7739
117
 (MedDRA:10072883) Brachydactyly 153 / 7739
118
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
119
 (OMIM) Small labia minora (50%) 2 / 7739
120
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
121
 (OMIM) Flat facial profile 6 / 7739
122
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening associated with facial and genital abnormalities (Robinow et al., 1969). Both autosomal dominant and autosomal recessive (268310) forms have been described; the recessive form is caused ...
Clinical Description OMIM Robinow et al. (1969) reported a family with a short stature syndrome inherited over 6 generations. Because of bulging forehead, depressed nasal bridge, and short limbs, achondroplasia (ACH; 100800) was suggested; however, the spine and pelvic radiologic findings ...
Molecular genetics OMIM Noting that Wnt5a-null mice exhibit features of Robinow syndrome and that WNT5A interacts with ROR2 (602337), which is mutated in autosomal recessive Robinow syndrome (268310), Person et al. (2010) analyzed the WNT5A gene in affected members of the ...