Acromesomelic dysplasia, Maroteaux type

General Information (adopted from Orphanet):

Synonyms, Signs: AMDM ST. HELENA DYSPLASIA, INCLUDED
Number of Symptoms 60
OrphanetNr: 40
OMIM Id: 602875
ICD-10: Q77.8
UMLs: C1864356
MeSH: C535661
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0003196) Short nose 264 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
6
 (HPO:0001831) Short toe 52 / 7739
7
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
8
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
9
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
10
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
11
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
12
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
13
 (HPO:0001783) Broad metatarsal 9 / 7739
14
 (HPO:0003027) Mesomelia Frequent [Orphanet] 58 / 7739
15
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
16
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
17
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
18
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
19
 (HPO:0010743) Short metatarsal 56 / 7739
20
 (HPO:0002986) Radial bowing 27 / 7739
21
 (HPO:0005619) Thoracolumbar kyphosis 8 / 7739
22
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
23
 (HPO:0001500) Broad finger 9 / 7739
24
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
25
 (HPO:0010049) Short metacarpal 99 / 7739
26
 (HPO:0003026) Short long bone 51 / 7739
27
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
28
 (HPO:0001377) Limited elbow extension 38 / 7739
29
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
30
 (HPO:0009803) Short phalanx of finger 79 / 7739
31
 (HPO:0008484) Thoracolumbar interpediculate narrowness 1 / 7739
32
 (HPO:0006009) Broad phalanx 11 / 7739
33
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
34
 (HPO:0004633) Lower thoracic kyphosis 1 / 7739
35
 (HPO:0003015) Flared metaphysis 44 / 7739
36
 (HPO:0001847) Long hallux 13 / 7739
37
 (HPO:0003086) Acromesomelia 3 / 7739
38
 (HPO:0001388) Joint laxity 117 / 7739
39
 (HPO:0001230) Broad metacarpals 17 / 7739
40
 (HPO:0003498) Disproportionate short stature 28 / 7739
41
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
42
 (HPO:0007516) Redundant skin on fingers 1 / 7739
43
 (HPO:0001799) Short nail 12 / 7739
44
 (OMIM) Short, broad metatarsal 3 / 7739
45
 (OMIM) Bowed forearms 2 / 7739
46
 (OMIM) Progressive shortening of radius in first year 1 / 7739
47
 (OMIM) Small-normal birth length 1 / 7739
48
 (OMIM) Progressive shortening of humerus in first year 1 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Progressive shortening of ulna in first year 1 / 7739
51
 (OMIM) Short, broad phalanges 3 / 7739
52
 (OMIM) Short, broad metacarpals 2 / 7739
53
 (OMIM) Superiorly curved clavicles 1 / 7739
54
 (MedDRA:10060042) Head circumference normal 5 / 7739
55
 (OMIM) Final adult height 38-49 inches 1 / 7739
56
 (OMIM) Broad middle and proximal phalanges 1 / 7739
57
 (OMIM) Broad, short fingers 4 / 7739
58
 (OMIM) Normal intelligence 81 / 7739
59
 (OMIM) Birth weight normal 14 / 7739
60
 (OMIM) Loose, redundant skin on fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Among those with autosomal recessive inheritance, ...
Molecular genetics OMIM AMDM maps to the interval that contains the gene encoding homodimeric transmembrane receptor natriuretic peptide receptor B (NPR2; 108961), which produces cytoplasmic cyclic GMP from GTP on binding its extracellular ligand, C-type natriuretic peptide (CNP; 600296). CNP had ...