Microcephalic osteodysplastic primordial dwarfism type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MOPD II
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
MOPD2
MOPD type II
Number of Symptoms 119
OrphanetNr: 2637
OMIM Id: 210720
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
3
 (HPO:0006338) Malformation of mandibular premolar 2 / 7739
4
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
5
 (HPO:0000278) Retrognathia 100 / 7739
6
 (HPO:0000691) Microdontia Frequent [Orphanet] Occasional [HPO:probinson] 104 / 7739
7
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
8
 (HPO:0000340) Sloping forehead 86 / 7739
9
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
10
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
12
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
13
 (HPO:0000448) Prominent nose 56 / 7739
14
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
15
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
16
 (HPO:0002209) Sparse scalp hair 59 / 7739
17
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
18
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
19
 (HPO:0000426) Prominent nasal bridge 121 / 7739
20
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
21
 (HPO:0002690) Large sella turcica rare [HPO:skoehler] 12 / 7739
22
 (HPO:0000540) Hypermetropia 99 / 7739
23
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
24
 (HPO:0008551) Microtia 98 / 7739
25
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
26
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
27
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
29
 (HPO:0001263) Global developmental delay 853 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
32
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
33
 (HPO:0003031) Ulnar bowing 16 / 7739
34
 (HPO:0002986) Radial bowing 27 / 7739
35
 (HPO:0002812) Coxa vara 58 / 7739
36
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
37
 (HPO:0100263) Distal symphalangism rare [HPO:skoehler] 5 / 7739
38
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
39
 (HPO:0000890) Long clavicles Occasional [HPO:probinson] 13 / 7739
40
 (HPO:0002982) Tibial bowing 36 / 7739
41
 (HPO:0010034) Short 1st metacarpal 19 / 7739
42
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
43
 (HPO:0001859) Distal foot symphalangism 4 / 7739
44
 (HPO:0001377) Limited elbow extension rare [HPO:skoehler] 38 / 7739
45
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
46
 (HPO:0006645) Thin clavicles Occasional [HPO:probinson] 4 / 7739
47
 (HPO:0001204) Distal symphalangism of hands 13 / 7739
48
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
49
 (HPO:0010579) Cone-shaped epiphysis Occasional [HPO:probinson] 54 / 7739
50
 (HPO:0003100) Slender long bone 45 / 7739
51
 (HPO:0005819) Short middle phalanx of finger rare [HPO:skoehler] 28 / 7739
52
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
53
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
54
 (HPO:0003015) Flared metaphysis 44 / 7739
55
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
56
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
57
 (HPO:0000882) Hypoplastic scapulae rare [HPO:skoehler] 28 / 7739
58
 (HPO:0006587) Straight clavicles Occasional [HPO:probinson] 3 / 7739
59
 (HPO:0006461) Proximal femoral epiphysiolysis 5 / 7739
60
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
61
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
62
 (HPO:0009193) Pseudoepiphyses of the metacarpals 4 / 7739
63
 (HPO:0000774) Narrow chest rare [HPO:skoehler] 167 / 7739
64
 (HPO:0003275) Narrow pelvis bone 8 / 7739
65
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
66
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
67
 (HPO:0010583) Ivory epiphyses Occasional [HPO:probinson] 4 / 7739
68
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
69
 (HPO:0008897) Postnatal growth retardation 113 / 7739
70
 (HPO:0003498) Disproportionate short stature 28 / 7739
71
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
72
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
73
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
74
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
75
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
76
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
77
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
78
 (HPO:0007402) Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 2 / 7739
79
 (HPO:0011834) Moyamoya phenomenon 4 / 7739
80
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
81
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
82
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
83
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
84
 (HPO:0100659) Abnormality of the cerebral vasculature Occasional [Orphanet] 25 / 7739
85
 (HPO:0004944) Cerebral aneurysm 12 / 7739
86
 (HPO:0100545) Arterial stenosis Occasional [Orphanet] 22 / 7739
87
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
88
 (HPO:0001620) High pitched voice 32 / 7739
89
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
90
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
91
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
92
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
93
 (OMIM) Normal intelligence 81 / 7739
94
 (OMIM) Bowed, short tibiae 4 / 7739
95
 (OMIM) Adult height (<100cm) 2 / 7739
96
 (OMIM) Rootless molars (in some patients) 2 / 7739
97
 (OMIM) Opalescent teeth 4 / 7739
98
 (OMIM) Microdontia, severe (in some patients) 2 / 7739
99
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
100
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
101
 (OMIM) Flat acetabular angles 2 / 7739
102
 (OMIM) V-shaped flaring of distal femoral metaphyses 2 / 7739
103
 (OMIM) Ivory and cone-shaped epiphyses (in some patients - disappears with age) 2 / 7739
104
 (OMIM) Bowed, short femora 4 / 7739
105
 (MedDRA:10028047) Moyamoya disease 4 / 7739
106
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
107
 (OMIM) Long second toe (in some patients) 3 / 7739
108
 (OMIM) Short bowed radii 5 / 7739
109
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
110
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
111
 (OMIM) Premature puberty 2 / 7739
112
 (OMIM) Angular scaphoid and trapezium bones (in some patients) 2 / 7739
113
 (OMIM) Multiple aneurysms 2 / 7739
114
 (OMIM) Type II diabetes 2 / 7739
115
 (OMIM) Short bowed ulnae 2 / 7739
116
 (OMIM) High, narrow pelvis 2 / 7739
117
 (OMIM) Long, slender, straight clavicles (in some patients) 2 / 7739
118
 (MedDRA:10072883) Brachydactyly 153 / 7739
119
 (OMIM) Infarcts 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental ...
Clinical Description OMIM In 3 unrelated children, Majewski et al. (1982) described a form of intrauterine and postnatal dwarfism with microcephaly and facial features resembling those of Seckel syndrome (see 210600) but with anomalies of bones: disproportionate shortness of forearms and ...
Molecular genetics OMIM Rauch et al. (2008) determined that biallelic loss-of-function mutations in the PCNT gene cause MOPD II. They identified 29 different mutations in the PCNT gene in 25 patients with MOPD II (see., e.g., 605925.0004-605925.0008). There were 12 stop ...