Acromicric dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ACMICD
Number of Symptoms 42
OrphanetNr: 969
OMIM Id: 102370
ICD-10: Q77.8
UMLs: C0265287
MeSH: C535662
MedDRA:
Snomed: 254090007

Prevalence, inheritance and age of onset:

Prevalence: < 40 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
2
(HPO:0001609) Hoarse voice 34 / 7739
3
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
(HPO:0003510) Severe short stature 90 / 7739
5
(HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
6
(HPO:0009803) Short phalanx of finger 79 / 7739
7
(HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
8
(HPO:0001773) Short foot 86 / 7739
9
(HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
10
(HPO:0005900) Fifth metacarpal with ulnar notch 1 / 7739
11
(HPO:0010049) Short metacarpal 99 / 7739
12
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
13
(HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
14
(HPO:0003300) Ovoid vertebral bodies 21 / 7739
15
(HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
16
(HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
17
(HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
18
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
19
(HPO:0003026) Short long bone 51 / 7739
20
(HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
21
(HPO:0000527) Long eyelashes 46 / 7739
22
(HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
23
(HPO:0000179) Thick lower lip vermilion 72 / 7739
24
(HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
25
(HPO:0002002) Deep philtrum 42 / 7739
26
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
27
(HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
28
(HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
29
(HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
30
(HPO:0000414) Bulbous nose 63 / 7739
31
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
32
(HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
33
(HPO:0001072) Thickened skin 87 / 7739
34
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
(OMIM) Growth cartilage disorganized, with islands of cells and abnormal collagen arrangement 1 / 7739
36
(OMIM) Internal notch of femoral head 1 / 7739
37
(OMIM) Mild facial anomalies 1 / 7739
38
(OMIM) Pseudomuscular build 1 / 7739
39
(OMIM) Second metacarpal notched proximally on radial side 1 / 7739
40
(OMIM) Short, stubby metacarpals 1 / 7739
41
(OMIM) Short, stubby phalanges 1 / 7739
42
(OMIM) Well-defined eyebrows 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected ...
Clinical Description OMIM Maroteaux et al. (1986) described and named a 'new' entity on the basis of 6 patients. Features were mild facial anomalies, markedly shortened hands and feet, and growth retardation that was severe in most. The metacarpals and phalanges ...
Molecular genetics OMIM In 10 patients with acromicric dysplasia, Le Goff et al. (2011) performed exome sequencing followed by candidate gene analysis and identified heterozygosity for 9 different mutations in the FBN1 gene (see, e.g., 134797.0055, 134797.0057, and 134797.0059-134797.0061). Two of ...