MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs: MOPD, SICILIAN FAIRY TYPE
MOPD III
MOPD, CAROLINE CRACHAMI TYPE
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE
MOPD3
Number of Symptoms 52
OrphanetNr:
OMIM Id: 210730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0002836) Bladder exstrophy 8 / 7739
3
 (HPO:0000340) Sloping forehead 86 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000677) Oligodontia 41 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
9
 (HPO:0100857) Flat sella turcica 1 / 7739
10
 (HPO:0000341) Narrow forehead 96 / 7739
11
 (HPO:0002690) Large sella turcica 12 / 7739
12
 (HPO:0000520) Proptosis 192 / 7739
13
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
14
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
15
 (HPO:0000486) Strabismus 576 / 7739
16
 (HPO:0000613) Photophobia 158 / 7739
17
 (HPO:0000611) Choroid coloboma 12 / 7739
18
 (HPO:0000540) Hypermetropia 99 / 7739
19
 (HPO:0000648) Optic atrophy 238 / 7739
20
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
21
 (HPO:0000501) Glaucoma 180 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0003173) Hypoplastic pubic bone 8 / 7739
24
 (HPO:0006380) Knee flexion contracture 56 / 7739
25
 (HPO:0000768) Pectus carinatum 136 / 7739
26
 (HPO:0008826) Dislocation of the femoral head 1 / 7739
27
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
28
 (HPO:0003100) Slender long bone 45 / 7739
29
 (HPO:0001883) Talipes 12 / 7739
30
 (HPO:0005832) Dysharmonic delayed bone age 3 / 7739
31
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
32
 (HPO:0003273) Hip contracture 30 / 7739
33
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
34
 (HPO:0005897) Severe generalized osteoporosis 4 / 7739
35
 (HPO:0003175) Hypoplastic ischia 12 / 7739
36
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
37
 (HPO:0002751) Kyphoscoliosis 131 / 7739
38
 (HPO:0004097) Deviation of finger 13 / 7739
39
 (HPO:0006470) Thin long bone diaphyses 1 / 7739
40
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
41
 (HPO:0003510) Severe short stature 90 / 7739
42
 (HPO:0001620) High pitched voice 32 / 7739
43
 (HPO:0001324) Muscle weakness 859 / 7739
44
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
45
 (HPO:0001252) Muscular hypotonia 990 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (HPO:0003717) Minimal subcutaneous fat 4 / 7739
48
 (OMIM) Small, pointed nose 1 / 7739
49
 (HPO:0001272) Cerebellar atrophy 197 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
51
 (OMIM) Enlarged, flat sella turcica 1 / 7739
52
 (OMIM) Steep, narrow forehead 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Majewski et al. (1982) reported a male infant with a 'new' form of microcephalic primordial dwarfism, then called osteodysplastic bird-headed dwarfism. Features were intrauterine growth retardation (as in the other forms), alopecia, microcephaly, receding forehead and chin, large ...