RIENHOFF SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: RNHF
Number of Symptoms 54
OrphanetNr:
OMIM Id: 615582
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000278) Retrognathia 100 / 7739
2
(HPO:0000319) Smooth philtrum rare [HPO:skoehler] 72 / 7739
3
(HPO:0011800) Midface retrusion rare [HPO:skoehler] 221 / 7739
4
(HPO:0000268) Dolichocephaly rare [HPO:skoehler] 144 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0000494) Downslanted palpebral fissures rare [HPO:skoehler] 328 / 7739
7
(HPO:0000316) Hypertelorism 644 / 7739
8
(HPO:0000193) Bifid uvula 66 / 7739
9
(HPO:0000283) Broad face rare [HPO:skoehler] 12 / 7739
10
(HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
11
(HPO:0000218) High palate 356 / 7739
12
(HPO:0000520) Proptosis 192 / 7739
13
(HPO:0000276) Long face rare [HPO:skoehler] 109 / 7739
14
(HPO:0000592) Blue sclerae 85 / 7739
15
(HPO:0000577) Exotropia 43 / 7739
16
(HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
17
(HPO:0001265) Hyporeflexia 208 / 7739
18
(HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
19
(HPO:0002751) Kyphoscoliosis 131 / 7739
20
(HPO:0000767) Pectus excavatum 244 / 7739
21
(HPO:0001382) Joint hypermobility 231 / 7739
22
(HPO:0000768) Pectus carinatum 136 / 7739
23
(HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
24
(HPO:0003302) Spondylolisthesis rare [HPO:skoehler] 14 / 7739
25
(HPO:0010665) Bilateral coxa valga 4 / 7739
26
(HPO:0001763) Pes planus 176 / 7739
27
(HPO:0001166) Arachnodactyly 62 / 7739
28
(HPO:0010646) Cervical spine instability rare [HPO:skoehler] 2 / 7739
29
(HPO:0000023) Inguinal hernia 181 / 7739
30
(HPO:0002036) Hiatus hernia 24 / 7739
31
(HPO:0001518) Small for gestational age 107 / 7739
32
(HPO:0004322) Short stature 1232 / 7739
33
(HPO:0001510) Growth delay 295 / 7739
34
(HPO:0000098) Tall stature 74 / 7739
35
(HPO:0000978) Bruising susceptibility rare [HPO:skoehler] 123 / 7739
36
(HPO:0001655) Patent foramen ovale rare [HPO:skoehler] 31 / 7739
37
(HPO:0001342) Cerebral hemorrhage rare [HPO:skoehler] 24 / 7739
38
(HPO:0001653) Mitral regurgitation 64 / 7739
39
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
40
(HPO:0003199) Decreased muscle mass 27 / 7739
41
(OMIM) Bilateral pes planus 1 / 7739
42
(OMIM) Bilateral contractures of toes, more severe on right side 1 / 7739
43
(OMIM) Metopic ridge, small 1 / 7739
44
(OMIM) Delay of gross motor function 1 / 7739
45
(OMIM) Bilateral contractures, most severe in right third and fourth fingers 1 / 7739
46
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
47
(OMIM) Subcutaneous fat markedly reduced 1 / 7739
48
(OMIM) Hyperextensibility of large joints 2 / 7739
49
(OMIM) Tubular nose 3 / 7739
50
(OMIM) Congenital hypotonia, mild 1 / 7739
51
(OMIM) Retrognathia, mild 3 / 7739
52
(OMIM) Decreased strength 1 / 7739
53
(HPO:0012771) Increased arm span 1 / 7739
54
(OMIM) Mild pectus excavatum 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Rienhoff (pronounced REENhoff) syndrome is a congenital syndrome characterized by abnormal development of several mesenchymal-derived tissues, including muscle and craniopalatofacial structures, accompanied by low muscle mass, growth retardation, distal arthrogryposis, and other secondary changes. The syndrome shares some ...
Clinical Description OMIM Rienhoff et al. (2013) described a 9-year-old European American girl, born to nonconsanguineous parents, whose birthweight was in the 5th centile with length and head circumference in the 50th centiles; in addition, she was noted to have contractures ...
Molecular genetics OMIM In a 9-year-old girl with low muscle mass, growth retardation, and distal arthrogryposis, who also exhibited features of Marfan, Loeys-Dietz, and Beals (121050) syndromes but did not meet the established diagnostic criteria for those syndromes, Rienhoff et al. ...