Microcephalic osteodysplastic primordial dwarfism types 1 and 3

General Information (adopted from Orphanet):

Synonyms, Signs: Taybi-Linder syndrome
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
MOPD types I and III
Number of Symptoms 99
OrphanetNr: 2636
OMIM Id: 210710
210730
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
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

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0000089) Renal hypoplasia 78 / 7739
4
 (HPO:0000107) Renal cyst 126 / 7739
5
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
6
 (HPO:0000028) Cryptorchidism 347 / 7739
7
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
10
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
11
 (HPO:0000448) Prominent nose 56 / 7739
12
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
13
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
14
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
15
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
16
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
17
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
18
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
19
 (HPO:0002209) Sparse scalp hair 59 / 7739
20
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
21
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
22
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
23
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
24
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
25
 (HPO:0000237) Small anterior fontanelle 10 / 7739
26
 (HPO:0000653) Sparse eyelashes 58 / 7739
27
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
28
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
29
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
30
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
31
 (HPO:0009912) Abnormality of the tragus Frequent [Orphanet] 12 / 7739
32
 (HPO:0000377) Abnormality of the pinna 111 / 7739
33
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
34
 (HPO:0000369) Low-set ears 372 / 7739
35
 (HPO:0008551) Microtia 98 / 7739
36
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
37
 (HPO:0001249) Intellectual disability 1089 / 7739
38
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
39
 (HPO:0010049) Short metacarpal 99 / 7739
40
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
41
 (HPO:0005792) Short humerus 34 / 7739
42
 (HPO:0000890) Long clavicles 13 / 7739
43
 (HPO:0001833) Long foot 33 / 7739
44
 (HPO:0003042) Elbow dislocation 89 / 7739
45
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
46
 (HPO:0003044) Shoulder flexion contracture 5 / 7739
47
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
48
 (HPO:0006380) Knee flexion contracture 56 / 7739
49
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
50
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
51
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
52
 (HPO:0000926) Platyspondyly 150 / 7739
53
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
54
 (HPO:0000878) 11 pairs of ribs 19 / 7739
55
 (HPO:0004616) Cleft vertebral arch 2 / 7739
56
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
57
 (HPO:0005108) Abnormality of the intervertebral disk Very frequent [Orphanet] 12 / 7739
58
 (HPO:0002827) Hip dislocation 94 / 7739
59
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
60
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
61
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
62
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
63
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
64
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
65
 (HPO:0002980) Femoral bowing 36 / 7739
66
 (HPO:0006400) Absent knee epiphyses 2 / 7739
67
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
68
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
69
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
70
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
71
 (HPO:0000946) Hypoplastic ilia 21 / 7739
72
 (HPO:0003097) Short femur 13 / 7739
73
 (HPO:0002987) Elbow flexion contracture 64 / 7739
74
 (HPO:0003051) Enlarged metaphyses 3 / 7739
75
 (HPO:0003865) Bowed humerus 5 / 7739
76
 (HPO:0003273) Hip contracture 30 / 7739
77
 (HPO:0001562) Oligohydramnios 75 / 7739
78
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
79
 (HPO:0006579) Prolonged neonatal jaundice 25 / 7739
80
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
81
 (HPO:0003498) Disproportionate short stature 28 / 7739
82
 (HPO:0001508) Failure to thrive 454 / 7739
83
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
84
 (HPO:0000962) Hyperkeratosis 216 / 7739
85
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
86
 (HPO:0000958) Dry skin 152 / 7739
87
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
88
 (HPO:0001680) Coarctation of aorta 57 / 7739
89
 (HPO:0001631) Atria septal defect 274 / 7739
90
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739
91
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
92
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
93
 (HPO:0003826) Stillbirth 40 / 7739
94
 (HPO:0001302) Pachygyria 60 / 7739
95
 (HPO:0007333) Hypoplasia of the frontal lobes 5 / 7739
96
 (HPO:0002282) Heterotopia 21 / 7739
97
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
98
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
99
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: