Greenberg dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: HEM SKELETAL DYSPLASIA
MOTH-EATEN SKELETAL DYSPLASIA
CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
GREENBERG DYSPLASIA
Skeletal dysplasia, Greenberg type
Hydrops - ectopic calcification - motheaten
Number of Symptoms 91
OrphanetNr: 1426
OMIM Id: 215140
ICD-10: Q77.3
UMLs: C1300226
MeSH: C537299
MedDRA:
Snomed: 389261002

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Sterol biosynthesis disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0002101) Abnormal lung lobation 11113916 IBIS 33 / 7739
3
 (HPO:0002202) Pleural effusion 3377005 IBIS 22 / 7739
4
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
5
 (HPO:0008754) Laryngeal calcification 2 / 7739
6
 (HPO:0002787) Tracheal calcification 3 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
9
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
10
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
11
 (HPO:0001640) Cardiomegaly 11113916 IBIS 81 / 7739
12
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
13
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
14
 (HPO:0003107) Abnormality of cholesterol metabolism 4 / 7739
15
 (HPO:0001561) Polyhydramnios 191 / 7739
16
 (HPO:0006487) Bowing of the long bones 95 / 7739
17
 (HPO:0009803) Short phalanx of finger 79 / 7739
18
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
19
 (HPO:0001830) Postaxial foot polydactyly 18382993 IBIS 37 / 7739
20
 (HPO:0001852) Sandal gap 11113916 IBIS 63 / 7739
21
 (HPO:0010442) Polydactyly 69 / 7739
22
 (HPO:0009107) Abnormal ossification involving the femoral head and neck 1 / 7739
23
 (HPO:0010675) Abnormal foot bone ossification 3 / 7739
24
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
25
 (HPO:0008364) Abnormality of the calcaneus 12210303 IBIS 1 / 7739
26
 (HPO:0003021) Metaphyseal cupping 12210303 IBIS 16 / 7739
27
 (HPO:0003015) Flared metaphysis 3377005 IBIS 44 / 7739
28
 (HPO:0001169) Broad palm 43 / 7739
29
 (HPO:0009487) Ulnar deviation of the hand 12210303 IBIS 5 / 7739
30
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
31
 (HPO:0003027) Mesomelia 58 / 7739
32
 (HPO:0002983) Micromelia 130 / 7739
33
 (HPO:0009106) Abnormal pelvis bone ossification 1 / 7739
34
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
35
 (HPO:0000347) Micrognathia 426 / 7739
36
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
37
 (HPO:0002694) Sclerosis of skull base 10 / 7739
38
 (HPO:0004331) Decreased skull ossification Frequent [Orphanet] 31 / 7739
39
 (HPO:0000348) High forehead 14684697 IBIS 157 / 7739
40
 (HPO:0000256) Macrocephaly 298 / 7739
41
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
42
 (HPO:0000890) Long clavicles 13 / 7739
43
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
44
 (HPO:0006619) Anterior rib punctate calcifications 1 / 7739
45
 (HPO:0000878) 11 pairs of ribs 19 / 7739
46
 (HPO:0000782) Abnormality of the scapula 3 / 7739
47
 (HPO:0006637) Sternal punctate calcifications 1 / 7739
48
 (HPO:0001552) Barrel-shaped chest 31 / 7739
49
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
50
 (HPO:0000773) Short ribs 70 / 7739
51
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
52
 (HPO:0008516) Abnormality of the vertebral spinous processes 1 / 7739
53
 (HPO:0004599) Absent or minimally ossified vertebral bodies 3377005 IBIS 18 / 7739
54
 (HPO:0004598) Supernumerary vertebral ossification centers 2 / 7739
55
 (HPO:0008420) Punctate vertebral calcifications 18382993 IBIS 2 / 7739
56
 (HPO:0003440) Horizontal sacrum 12210303 IBIS 5 / 7739
57
 (HPO:0008479) Hypoplastic vertebral bodies 3377005 IBIS 12 / 7739
58
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
59
 (HPO:0010655) Epiphyseal stippling 32 / 7739
60
 (HPO:0010659) Patchy variation in bone mineral density 1 / 7739
61
 (HPO:0001367) Abnormal joint morphology 12618959 IBIS 53 / 7739
62
 (HPO:0005019) Diaphyseal thickening 8213919 IBIS 4 / 7739
63
 (HPO:0000941) Short diaphyses 3 / 7739
64
 (HPO:0005716) Lethal skeletal dysplasia 14684697 IBIS 6 / 7739
65
 (HPO:0005855) Multiple prenatal fractures 10 / 7739
66
 (HPO:0001802) Absent toenail 11113916 IBIS 6 / 7739
67
 (HPO:0001804) Hypoplastic fingernail 11113916 IBIS 62 / 7739
68
 (HPO:0002566) Intestinal malrotation 11113916 IBIS 89 / 7739
69
 (HPO:0006559) Hepatic calcification 18382993 IBIS 2 / 7739
70
 (HPO:0002240) Hepatomegaly 467 / 7739
71
 (HPO:0001433) Hepatosplenomegaly 11113916 IBIS 78 / 7739
72
 (HPO:0004510) Pancreatic islet-cell hyperplasia 3377005 IBIS 9 / 7739
73
 (HPO:0001539) Omphalocele 11113916 IBIS 102 / 7739
74
 (HPO:0000272) Malar flattening 277 / 7739
75
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
76
 (HPO:0000692) Misalignment of teeth 3377005 IBIS 18 / 7739
77
 (HPO:0005280) Depressed nasal bridge 381 / 7739
78
 (HPO:0000476) Cystic hygroma 22 / 7739
79
 (HPO:0000369) Low-set ears 18382993 IBIS 372 / 7739
80
 (HPO:0001978) Extramedullary hematopoiesis 6 / 7739
81
 (HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
82
 (HPO:0005099) Severe hydrops fetalis 2 / 7739
83
 (HPO:0100603) Toxemia of pregnancy Frequent [Orphanet] 7 / 7739
84
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
85
 (HPO:0003811) Neonatal death 44 / 7739
86
 (HPO:0003826) Stillbirth 40 / 7739
87
 (OMIM) 11 ribs 2 / 7739
88
 (OMIM) Elevated cholesta-8,14-dien-3-beta-ol 1 / 7739
89
 (OMIM) Iliac apophysis, pubis and ischial punctate calcifications 1 / 7739
90
 (OMIM) Moth-eaten (fragmented) long bones 1 / 7739
91
 (OMIM) Platyspondyly with multiple extra ossification centers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Greenberg et al. (1988) described 2 sibs, the offspring of consanguineous parents, who presented with an apparently 'new' severe form of short-limb dwarfism. The chondroosseus radiologic and histologic features were distinctive. The first sib presented at 30 weeks ...
Molecular genetics OMIM Waterham et al. (2003) conducted chemical and molecular investigations in cells from a fetus with HEM skeletal dysplasia, the product of healthy consanguineous Turkish parents, who presented with intrauterine growth retardation at 17 weeks' gestation on fetal ultrasound ...