Acromesomelic dysplasia, Hunter-Thomson type

General Information (adopted from Orphanet):

Synonyms, Signs: AMDH
acromesomelic dwarfism
Number of Symptoms 45
OrphanetNr: 968
OMIM Id: 201250
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
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:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
2
 (HPO:0009778) Short thumb 50 / 7739
3
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
4
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
5
 (HPO:0002827) Hip dislocation 94 / 7739
6
 (HPO:0002999) Patellar dislocation Frequent [Orphanet] 46 / 7739
7
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
8
 (HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
9
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
10
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
11
 (HPO:0003179) Protrusio acetabuli 37 / 7739
12
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
13
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
14
 (HPO:0005096) Distal femoral bowing 1 / 7739
15
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
16
 (HPO:0006011) Cuboidal metacarpal 1 / 7739
17
 (HPO:0006144) Shortening of all proximal phalanges of the fingers 2 / 7739
18
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
19
 (HPO:0006014) Abnormally shaped carpal bones 1 / 7739
20
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
21
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
22
 (HPO:0003038) Fibular hypoplasia 30 / 7739
23
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
24
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
25
 (HPO:0003086) Acromesomelia 3 / 7739
26
 (HPO:0003834) Shoulder dislocation 28 / 7739
27
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
28
 (HPO:0012095) Multiple joint dislocation 24 / 7739
29
 (HPO:0001773) Short foot 86 / 7739
30
 (HPO:0001373) Joint dislocation 59 / 7739
31
 (HPO:0005736) Short tibia 19 / 7739
32
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
33
 (HPO:0002986) Radial bowing 27 / 7739
34
 (HPO:0003994) Dislocated wrist 24 / 7739
35
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (HPO:0008890) Severe short-limb dwarfism 1 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
39
 (OMIM) Short proximal and medial phalanges 1 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (OMIM) Very short fibulae 1 / 7739
42
 (OMIM) Short, cuboidal metacarpals 1 / 7739
43
 (OMIM) Ball-shaped toes 1 / 7739
44
 (OMIM) Short thumbs and fingers 1 / 7739
45
 (OMIM) Nine carpal bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The forearms, hands, and feet are predominantly involved. Adult height is about 120 cm. The radius is curved and its head is often dislocated posteriorly. The metacarpals, metatarsals, and phalanges are particularly short. The phalanges are almost square. ...
Molecular genetics OMIM In a family described by Langer et al. (1989) from the Choco District of Colombia with Hunter-Thompson type chondrodysplasia, Thomas et al. (1996) demonstrated homozygosity for a 22-bp tandem duplication frameshift mutation (601146.0001) in affected members.