Primordial short stature - microdontia - opalescent and rootless teeth

General Information (adopted from Orphanet):

Synonyms, Signs: MOPD II
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
MOPD2
Number of Symptoms 60
OrphanetNr: 46658
OMIM Id: 210720
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal/infancy
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0002209) Sparse scalp hair 59 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
(HPO:0000426) Prominent nasal bridge 121 / 7739
6
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
7
(HPO:0000340) Sloping forehead 86 / 7739
8
(HPO:0000278) Retrognathia 100 / 7739
9
(HPO:0000448) Prominent nose 56 / 7739
10
(HPO:0002690) Large sella turcica 12 / 7739
11
(HPO:0006338) Malformation of mandibular premolar 2 / 7739
12
(HPO:0000540) Hypermetropia 99 / 7739
13
(HPO:0008551) Microtia 98 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0001204) Distal symphalangism of hands 13 / 7739
17
(HPO:0002812) Coxa vara 58 / 7739
18
(HPO:0000882) Hypoplastic scapulae 28 / 7739
19
(HPO:0001377) Limited elbow extension 38 / 7739
20
(HPO:0002750) Delayed skeletal maturation 250 / 7739
21
(HPO:0002866) Hypoplastic iliac wing 34 / 7739
22
(HPO:0001859) Distal foot symphalangism 4 / 7739
23
(HPO:0009193) Pseudoepiphyses of the metacarpals 4 / 7739
24
(HPO:0006461) Proximal femoral epiphysiolysis 5 / 7739
25
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
26
(HPO:0005819) Short middle phalanx of finger 28 / 7739
27
(HPO:0003015) Flared metaphysis 44 / 7739
28
(HPO:0009882) Short distal phalanx of finger 125 / 7739
29
(HPO:0100263) Distal symphalangism 5 / 7739
30
(HPO:0010034) Short 1st metacarpal 19 / 7739
31
(HPO:0000774) Narrow chest 167 / 7739
32
(HPO:0001511) Intrauterine growth retardation 358 / 7739
33
(HPO:0001956) Truncal obesity 39 / 7739
34
(HPO:0003498) Disproportionate short stature 28 / 7739
35
(HPO:0008850) Severe postnatal growth retardation 16 / 7739
36
(HPO:0000957) Cafe-au-lait spot 84 / 7739
37
(HPO:0007402) Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 2 / 7739
38
(HPO:0001620) High pitched voice 32 / 7739
39
(OMIM) Angular scaphoid and trapezium bones (in some patients) 2 / 7739
40
(OMIM) Bowed, short tibiae 4 / 7739
41
(OMIM) Ivory and cone-shaped epiphyses (in some patients - disappears with age) 2 / 7739
42
(OMIM) Premature puberty 2 / 7739
43
(MedDRA:10072883) Brachydactyly 153 / 7739
44
(OMIM) Type II diabetes 2 / 7739
45
(OMIM) Adult height (<100cm) 2 / 7739
46
(OMIM) Rootless molars (in some patients) 2 / 7739
47
(OMIM) Long second toe (in some patients) 3 / 7739
48
(OMIM) Normal intelligence 81 / 7739
49
(OMIM) Opalescent teeth 4 / 7739
50
(OMIM) Short bowed ulnae 2 / 7739
51
(OMIM) Flat acetabular angles 2 / 7739
52
(MedDRA:10028047) Moyamoya disease 4 / 7739
53
(OMIM) V-shaped flaring of distal femoral metaphyses 2 / 7739
54
(OMIM) Short bowed radii 5 / 7739
55
(OMIM) Microdontia, severe (in some patients) 2 / 7739
56
(OMIM) Infarcts 2 / 7739
57
(OMIM) Multiple aneurysms 2 / 7739
58
(OMIM) Long, slender, straight clavicles (in some patients) 2 / 7739
59
(OMIM) Bowed, short femora 4 / 7739
60
(OMIM) High, narrow pelvis 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 ...