Intellectual deficit - cataracts - calcified pinnae - myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: primrose syndrome
Number of Symptoms 77
OrphanetNr: 3042
OMIM Id: 259050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0008689) Bilateral cryptorchidism rare [HPO:skoehler] 38 / 7739
2
(HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
3
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
4
(HPO:0000179) Thick lower lip vermilion 72 / 7739
5
(HPO:0000490) Deeply set eye 131 / 7739
6
(HPO:0000337) Broad forehead 116 / 7739
7
(HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
8
(HPO:0000256) Macrocephaly 298 / 7739
9
(HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
10
(HPO:0005758) Basilar impression 6 / 7739
11
(HPO:0000272) Malar flattening 277 / 7739
12
(HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
13
(HPO:0000248) Brachycephaly 222 / 7739
14
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
15
(HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
16
(HPO:0000508) Ptosis 459 / 7739
17
(HPO:0001115) Posterior polar cataract 8 / 7739
18
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
19
(HPO:0008541) Superiorly displaced ears 1 / 7739
20
(HPO:0000365) Hearing impairment 539 / 7739
21
(HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
22
(HPO:0005103) Calcification of the auricular cartilage Very frequent [Orphanet] 3 / 7739
23
(HPO:0000400) Macrotia 108 / 7739
24
(HPO:0000717) Autism rare [HPO:skoehler] 108 / 7739
25
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
26
(HPO:0001249) Intellectual disability 1089 / 7739
27
(HPO:0100716) Self-injurious behavior rare [HPO:skoehler] 43 / 7739
28
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
29
(HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
30
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
31
(HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
32
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
33
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
34
(HPO:0006380) Knee flexion contracture 56 / 7739
35
(HPO:0002857) Genu valgum 144 / 7739
36
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
37
(HPO:0001840) Metatarsus adductus 49 / 7739
38
(HPO:0000939) Osteoporosis 129 / 7739
39
(HPO:0005121) Posterior scalloping of vertebral bodies 4 / 7739
40
(HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
41
(HPO:0001761) Pes cavus 225 / 7739
42
(HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
43
(HPO:0001371) Flexion contracture 220 / 7739
44
(HPO:0003273) Hip contracture 30 / 7739
45
(HPO:0002514) Cerebral calcification rare [HPO:skoehler] 89 / 7739
46
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
47
(HPO:0003301) Irregular vertebral endplates 25 / 7739
48
(HPO:0009473) Joint contracture of the hand 84 / 7739
49
(HPO:0009882) Short distal phalanx of finger 125 / 7739
50
(HPO:0012062) Bone cyst Very frequent [Orphanet] 19 / 7739
51
(HPO:0002868) Narrow iliac wings 15 / 7739
52
(HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
53
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
54
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
55
(HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
56
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
57
(HPO:0001956) Truncal obesity 39 / 7739
58
(HPO:0002550) Absent facial hair 3 / 7739
59
(HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
60
(HPO:0002221) Absent axillary hair 6 / 7739
61
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
62
(HPO:0003693) Distal amyotrophy 118 / 7739
63
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
64
(HPO:0001252) Muscular hypotonia 990 / 7739
65
(HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
66
(HPO:0040160) Generalized osteoporosis 7 / 7739
67
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
68
(OMIM) Short terminal phalanges 5 / 7739
69
(HPO:0002180) Neurodegeneration 31 / 7739
70
(HPO:0003745) Sporadic 131 / 7739
71
(HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
72
(OMIM) Flexed toes 1 / 7739
73
(OMIM) Absent facial, axillary, body hair 1 / 7739
74
(OMIM) Downward sloping ribs 1 / 7739
75
(OMIM) Dystrophic fingernails and toenails 1 / 7739
76
(OMIM) Cystic bone lesions 1 / 7739
77
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primrose syndrome consists of recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, and distal muscle wasting (summary by Carvalho and Speck-Martins, 2011).
Clinical Description OMIM Primrose (1982) described the single case of a 33-year-old mentally retarded male who had been institutionalized from the age of 12 years. The parents were not related. He showed progressive wasting of the distal muscles of the legs ...