Acromesomelic dysplasia, Grebe type

General Information (adopted from Orphanet):

Synonyms, Signs: GREBE DYSPLASIA
GREBE CHONDRODYSPLASIA
ACHONDROGENESIS, BRAZILIAN
ACHONDROGENESIS, TYPE II, FORMERLY
ACROMESOMELIC DYSPLASIA, GREBE TYPE
AMDG
Chondrodysplasia, Grebe type
Number of Symptoms 44
OrphanetNr: 2098
OMIM Id: 200700
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acromesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009803) Short phalanx of finger 79 / 7739
2
 (HPO:0008081) Valgus foot deformity 3 / 7739
3
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 8 / 7739
4
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
5
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
6
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
7
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
8
 (HPO:0001964) Aplasia/Hypoplasia of metatarsal bones 5 / 7739
9
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
10
 (HPO:0005792) Short humerus 34 / 7739
11
 (HPO:0005736) Short tibia 19 / 7739
12
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
13
 (HPO:0100259) Postaxial polydactyly 85 / 7739
14
 (HPO:0006228) Valgus hand deformity 1 / 7739
15
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
16
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
17
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
18
 (HPO:0001371) Flexion contracture 220 / 7739
19
 (HPO:0003038) Fibular hypoplasia 30 / 7739
20
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
21
 (HPO:0003086) Acromesomelia 3 / 7739
22
 (HPO:0009776) Adactyly Very frequent [Orphanet] 11 / 7739
23
 (HPO:0011927) Short digit 17 / 7739
24
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
25
 (HPO:0003097) Short femur 13 / 7739
26
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
27
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
28
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
29
 (HPO:0001773) Short foot 86 / 7739
30
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
31
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
32
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
33
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
34
 (OMIM) Limb reduction, especially distally (acromesomelia) 1 / 7739
35
 (OMIM) Average adult female height, 99.5cm 1 / 7739
36
 (OMIM) Rudimentary carpal bones 1 / 7739
37
 (OMIM) Average adult male height, 100.5cm 1 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
40
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
41
 (OMIM) Legs shorter than arms 1 / 7739
42
 (OMIM) Fused tarsal bone 1 / 7739
43
 (HPO:0003826) Stillbirth 40 / 7739
44
 (OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and ...
Clinical Description OMIM Grebe (1952, 1955) described the disorder in 7- and 11-year-old sisters, offspring of a consanguineous mating. (The name is pronounced GRAY-beh.) The same disorder was found in Brazil by Quelce-Salgado (1964). In these cases, all 4 limbs are ...
Molecular genetics OMIM Thomas et al. (1997) used the candidate gene approach to identify the genetic defect in Grebe type chondrodysplasia. They identified 20 members of the original family from the state of Bahia in Brazil described by Quelce-Salgado (1964). The ...