Roifman syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
Spondyloepiphyseal dysplasia - retinal dystrophy - immunodeficiency
Number of Symptoms 69
OrphanetNr: 353298
OMIM Id: 300258
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other immunodeficiency syndrome with predominantly antibody defects
 -Rare genetic disease
 -Rare immune disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000527) Long eyelashes 46 / 7739
3
 (HPO:0000581) Blepharophimosis 197 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0000460) Narrow nose 14 / 7739
7
 (HPO:0011231) Prominent eyelashes 9 / 7739
8
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
9
 (HPO:0011108) Recurrent sinusitis 30 / 7739
10
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
11
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
12
 (HPO:0000556) Retinal dystrophy 65 / 7739
13
 (HPO:0000486) Strabismus 576 / 7739
14
 (HPO:0000540) Hypermetropia 99 / 7739
15
 (HPO:0000388) Otitis media 28 / 7739
16
 (HPO:0001256) Intellectual disability, mild 141 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0006889) Intellectual disability, borderline 6 / 7739
19
 (HPO:0000823) Delayed puberty 65 / 7739
20
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
21
 (HPO:0010041) Short 3rd metacarpal 5 / 7739
22
 (HPO:0008804) Broad femoral head 1 / 7739
23
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
24
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
25
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0011406) Infancy onset short-trunk short stature 1 / 7739
28
 (HPO:0006429) Broad femoral neck 18 / 7739
29
 (HPO:0004704) Short fifth metatarsal 3 / 7739
30
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
31
 (HPO:0003273) Hip contracture 30 / 7739
32
 (HPO:0004689) Short fourth metatarsal 9 / 7739
33
 (HPO:0000954) Single transverse palmar crease 162 / 7739
34
 (HPO:0005041) Irregular capital femoral epiphysis 5 / 7739
35
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
36
 (HPO:0010044) Short 4th metacarpal 14 / 7739
37
 (HPO:0001622) Premature birth 100 / 7739
38
 (HPO:0002240) Hepatomegaly 467 / 7739
39
 (HPO:0001744) Splenomegaly 337 / 7739
40
 (HPO:0006580) Portal fibrosis 10 / 7739
41
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
42
 (HPO:0001795) Hyperconvex nail 13 / 7739
43
 (HPO:0000964) Eczema 81 / 7739
44
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
45
 (HPO:0001880) Eosinophilia 35 / 7739
46
 (HPO:0002099) Asthma 62 / 7739
47
 (HPO:0006532) Recurrent pneumonia 48 / 7739
48
 (HPO:0002719) Recurrent infections 107 / 7739
49
 (HPO:0002716) Lymphadenopathy 129 / 7739
50
 (HPO:0001324) Muscle weakness 859 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
53
 (HPO:0001252) Muscular hypotonia 990 / 7739
54
 (OMIM) Normal lymphocyte response to pokeweed mitogen and conconavalin A 1 / 7739
55
 (OMIM) Small, irregular proximal femoral epiphyses 1 / 7739
56
 (OMIM) Partial cutaneous syndactyly 2 / 7739
57
 (OMIM) Noncompaction of the heart 1 / 7739
58
 (OMIM) Broad femoral heads and necks 1 / 7739
59
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
60
 (OMIM) Small 3rd and 4th metacarpals 1 / 7739
61
 (OMIM) Bilateral transverse palmar creases 4 / 7739
62
 (OMIM) Mild portal fibrosis 2 / 7739
63
 (OMIM) Normal IgG, IgA, IgM, IgE levels 1 / 7739
64
 (OMIM) Absent mitogenic response to Staphylococcus aureus Cowan antigen (SAC) 1 / 7739
65
 (OMIM) Long, prominent eyelashes 1 / 7739
66
 (OMIM) Low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella) 1 / 7739
67
 (OMIM) Short 4th and 5th metatarsals 1 / 7739
68
 (MedDRA:10072883) Brachydactyly 153 / 7739
69
 (OMIM) Normal T-cell numbers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006).

Roifman and Melamed (2003) compared the features of Roifman syndrome ...
Clinical Description OMIM Roifman (1997, 1999) described a syndrome of immune deficiency, growth retardation, intellectual deficit, and spondyloepiphyseal dysplasia (SED) in 4 boys, 3 of whom also had retinal dystrophy.

Robertson et al. (2000) described a boy with similar ...