Lenz-Majewski hyperostotic dwarfism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 100
OrphanetNr: 2658
OMIM Id: 151050
ICD-10: Q87.1
UMLs: C0432269
MeSH: C537115
MedDRA:
Snomed: 1393001

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
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:0000041) Chordee 11 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
7
 (HPO:0004482) Relative macrocephaly 44 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
10
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
11
 (HPO:0005477) Progressive sclerosis of skull base 1 / 7739
12
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
13
 (HPO:0011220) Prominent forehead 137 / 7739
14
 (HPO:0000164) Abnormality of the teeth 291 / 7739
15
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
16
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
17
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
18
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
19
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
20
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
21
 (HPO:0002007) Frontal bossing 366 / 7739
22
 (HPO:0000452) Choanal stenosis 23 / 7739
23
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
24
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
25
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
26
 (HPO:0000171) Microglossia 27 / 7739
27
 (HPO:0000453) Choanal atresia Very frequent [Orphanet] 76 / 7739
28
 (HPO:0007678) Lacrimal duct stenosis 8 / 7739
29
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
30
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
31
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
32
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
33
 (HPO:0000400) Macrotia 108 / 7739
34
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
35
 (HPO:0001249) Intellectual disability 1089 / 7739
36
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
37
 (HPO:0000916) Broad clavicles 6 / 7739
38
 (HPO:0003015) Flared metaphysis 44 / 7739
39
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
40
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
41
 (HPO:0003041) Humeroradial synostosis Frequent [Orphanet] 19 / 7739
42
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
43
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
44
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
45
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
46
 (HPO:0006380) Knee flexion contracture 56 / 7739
47
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
48
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
49
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
50
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
51
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
52
 (HPO:0000885) Broad ribs 21 / 7739
53
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
54
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
55
 (HPO:0001159) Syndactyly 140 / 7739
56
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
57
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
58
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
59
 (HPO:0006152) Proximal symphalangism of hands 9 / 7739
60
 (HPO:0002987) Elbow flexion contracture 64 / 7739
61
 (HPO:0100264) Proximal symphalangism 3 / 7739
62
 (HPO:0005019) Diaphyseal thickening 4 / 7739
63
 (HPO:0000023) Inguinal hernia 181 / 7739
64
 (HPO:0001545) Anteriorly placed anus 55 / 7739
65
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
66
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
67
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
68
 (HPO:0001508) Failure to thrive 454 / 7739
69
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
70
 (HPO:0000973) Cutis laxa 43 / 7739
71
 (HPO:0008070) Sparse hair 94 / 7739
72
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
73
 (HPO:0001043) Prominent scalp veins 3 / 7739
74
 (HPO:0000965) Cutis marmorata 46 / 7739
75
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
76
 (HPO:0000963) Thin skin 96 / 7739
77
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
78
 (HPO:0001324) Muscle weakness 859 / 7739
79
 (HPO:0010547) Muscle flaccidity 466 / 7739
80
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
81
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
82
 (OMIM) Osteopenic epiphyses 1 / 7739
83
 (OMIM) Long, flared metaphyses 1 / 7739
84
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
85
 (OMIM) Shallow, distorted orbits 1 / 7739
86
 (OMIM) Broad, prominent forehead 2 / 7739
87
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
88
 (OMIM) Metaphyseal hypostosis 1 / 7739
89
 (OMIM) Postnatal short stature 4 / 7739
90
 (HPO:0003745) Sporadic 131 / 7739
91
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
92
 (OMIM) Mental retardation, moderate to severe 20 / 7739
93
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
94
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
95
 (OMIM) Dorsiflexion of fingers 1 / 7739
96
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
97
 (OMIM) Thin, hypotrophic skin 1 / 7739
98
 (OMIM) Severe emaciation 1 / 7739
99
 (OMIM) Dysplastic enamel 1 / 7739
100
 (OMIM) Progressive sclerosis of facial bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: