Pseudoleprechaunism syndrome, Patterson type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 60
OrphanetNr: 2976
OMIM Id: 169170
ICD-10: E34.8
UMLs: C1868546
MeSH: C536310
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disease with Cushing syndrome as a major feature
 -Rare endocrine disease
Rare genetic adrenal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
2
 (HPO:0002684) Thickened calvaria 32 / 7739
3
 (HPO:0000448) Prominent nose 56 / 7739
4
 (HPO:0000400) Macrotia 108 / 7739
5
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
8
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
9
 (HPO:0001578) Hypercortisolism 17 / 7739
10
 (HPO:0012412) Premature adrenarche 1 / 7739
11
 (HPO:0008221) Adrenal hyperplasia Frequent [Orphanet] 24 / 7739
12
 (HPO:0005978) Type II diabetes mellitus Frequent [Orphanet] 68 / 7739
13
 (HPO:0000826) Precocious puberty Frequent [Orphanet] 42 / 7739
14
 (HPO:0000819) Diabetes mellitus 131 / 7739
15
 (HPO:0001833) Long foot 33 / 7739
16
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
17
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
18
 (HPO:0005833) Joint swelling onset late infancy 2 / 7739
19
 (HPO:0003180) Flat acetabular roof 25 / 7739
20
 (HPO:0008476) Irregular sclerotic endplates 3 / 7739
21
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
22
 (HPO:0003309) Ovoid thoracolumbar vertebrae 6 / 7739
23
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
25
 (HPO:0004558) Cervical platyspondyly 3 / 7739
26
 (HPO:0002751) Kyphoscoliosis 131 / 7739
27
 (HPO:0002857) Genu valgum 144 / 7739
28
 (HPO:0008833) Irregular acetabular roof 3 / 7739
29
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
30
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
31
 (HPO:0004684) Talipes valgus 28 / 7739
32
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
33
 (HPO:0001176) Large hands 43 / 7739
34
 (HPO:0003799) Marked delay in bone age 5 / 7739
35
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
36
 (HPO:0003026) Short long bone 51 / 7739
37
 (HPO:0001507) Growth abnormality 36 / 7739
38
 (HPO:0007574) Generalized bronze hyperpigmentation 1 / 7739
39
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
40
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
41
 (HPO:0001007) Hirsutism 91 / 7739
42
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
43
 (OMIM) Birth weight normal 14 / 7739
44
 (OMIM) Normal hearing 9 / 7739
45
 (OMIM) Irregular metaphyseal ossification 1 / 7739
46
 (HPO:0004629) Small cervical vertebral bodies 2 / 7739
47
 (OMIM) Ankle valgus deformity 2 / 7739
48
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
49
 (OMIM) Short, deformed tubular bones 1 / 7739
50
 (OMIM) Thick maxilla 1 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
52
 (OMIM) Thick ethmoid bones 1 / 7739
53
 (OMIM) Disproportionately large ears 1 / 7739
54
 (OMIM) Failure of ossification of pubic bones, ischii, triradiate cartilages 1 / 7739
55
 (OMIM) Thick mandibular condyles 1 / 7739
56
 (OMIM) Sclerotic metaphyseal changes 1 / 7739
57
 (OMIM) Cutis laxa, hands and feet (present at birth) 1 / 7739
58
 (HPO:0003745) Sporadic 131 / 7739
59
 (OMIM) Small, flat cervical vertebrae 1 / 7739
60
 (OMIM) Flat, irregular acetabular roofs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Patterson and Watkins (1962) described a 10-month-old boy who they thought had leprechaunism (Donohue syndrome; 246200). Discordant features, however, were normal birth weight (rather than the usual severe intrauterine growth retardation) and marked cutis gyrata of hands and ...