MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: CEPHALOSKELETAL DYSPLASIA
TAYBI-LINDER SYNDROME
BRACHYMELIC PRIMORDIAL DWARFISM
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA
MOPD I
MOPD
TALS
MOPD1
Number of Symptoms 62
OrphanetNr:
OMIM Id: 210710
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000107) Renal cyst 126 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000269) Prominent occiput 43 / 7739
7
 (HPO:0000653) Sparse eyelashes 58 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000237) Small anterior fontanelle 10 / 7739
10
 (HPO:0000470) Short neck 345 / 7739
11
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
12
 (HPO:0002209) Sparse scalp hair 59 / 7739
13
 (HPO:0000340) Sloping forehead 86 / 7739
14
 (HPO:0000520) Proptosis 192 / 7739
15
 (HPO:0000369) Low-set ears 372 / 7739
16
 (HPO:0000377) Abnormality of the pinna 111 / 7739
17
 (HPO:0008551) Microtia 98 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0001250) Seizures 1245 / 7739
20
 (HPO:0010049) Short metacarpal 99 / 7739
21
 (HPO:0004616) Cleft vertebral arch 2 / 7739
22
 (HPO:0003273) Hip contracture 30 / 7739
23
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
24
 (HPO:0006380) Knee flexion contracture 56 / 7739
25
 (HPO:0001371) Flexion contracture 220 / 7739
26
 (HPO:0002827) Hip dislocation 94 / 7739
27
 (HPO:0000926) Platyspondyly 150 / 7739
28
 (HPO:0002980) Femoral bowing 36 / 7739
29
 (HPO:0003042) Elbow dislocation 89 / 7739
30
 (HPO:0002987) Elbow flexion contracture 64 / 7739
31
 (HPO:0006400) Absent knee epiphyses 2 / 7739
32
 (HPO:0000890) Long clavicles 13 / 7739
33
 (HPO:0000878) 11 pairs of ribs 19 / 7739
34
 (HPO:0003051) Enlarged metaphyses 3 / 7739
35
 (HPO:0005792) Short humerus 34 / 7739
36
 (HPO:0003865) Bowed humerus 5 / 7739
37
 (HPO:0000946) Hypoplastic ilia 21 / 7739
38
 (HPO:0001562) Oligohydramnios 75 / 7739
39
 (HPO:0001508) Failure to thrive 454 / 7739
40
 (HPO:0003498) Disproportionate short stature 28 / 7739
41
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
42
 (HPO:0000962) Hyperkeratosis 216 / 7739
43
 (HPO:0000958) Dry skin 152 / 7739
44
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
45
 (HPO:0001631) Atria septal defect 274 / 7739
46
 (HPO:0001680) Coarctation of aorta 57 / 7739
47
 (OMIM) Bilateral transverse palmar creases 4 / 7739
48
 (HPO:0002282) Heterotopia 21 / 7739
49
 (OMIM) Short limbs 17 / 7739
50
 (HPO:0001302) Pachygyria 60 / 7739
51
 (OMIM) Relatively large hands 1 / 7739
52
 (OMIM) Shoulder contractures 3 / 7739
53
 (MedDRA:10072883) Brachydactyly 153 / 7739
54
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
55
 (OMIM) Steep skull base 1 / 7739
56
 (OMIM) Horizontal iliac wings 1 / 7739
57
 (OMIM) Focal medullary hypoplasia 1 / 7739
58
 (MedDRA:10056528) Neonatal cholestasis 2 / 7739
59
 (HPO:0007333) Hypoplasia of the frontal lobes 5 / 7739
60
 (OMIM) Large, fleshy nose 1 / 7739
61
 (OMIM) Relatively large feet 1 / 7739
62
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Majewski and Spranger (1976) described a form of brachymelic primordial dwarfism that resembled Seckel syndrome (210600) except for abnormal body proportions and short limbs; Seckel syndrome patients have normal proportions. The pelvis was low, broad, and 'dysplastic' with ...
Molecular genetics OMIM He et al. (2011) identified 4 different mutations in the RNU4ATAC gene resulting in MOPD1 in the Ohio Amish population, 2 German families, and 1 Australian family of Maltese descent. Functional assays showed that these mutations caused defective ...