MCID: ACR043
MIFTS: 31

Acromicric Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Acromicric Dysplasia

MalaCards integrated aliases for Acromicric Dysplasia:

Name: Acromicric Dysplasia 54 50 24 25 71 29 13 69
Acmicd 24 25 71
Acromicric Skeletal Dysplasia 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
acromicric dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acromicric Dysplasia

OMIM : 54
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 individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). (102370)

MalaCards based summary : Acromicric Dysplasia, also known as acmicd, is related to geleophysic dwarfism and geleophysic dysplasia, and has symptoms including long eyelashes, brachydactyly and bulbous nose. An important gene associated with Acromicric Dysplasia is FBN1 (Fibrillin 1). Affiliated tissues include bone and skin.

NIH Rare Diseases : 50 acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic x-ray abnormalities of the hands, and other features that occasionally occur. intelligence is normal. it has recently been found to be caused by mutations in the fbn1 gene and is inherited in an autosomal dominant manner. the prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal. last updated: 1/30/2012

UniProtKB/Swiss-Prot : 71 Acromicric dysplasia: 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 individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.

Genetics Home Reference : 25 Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

Wikipedia : 72 Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and... more...

Related Diseases for Acromicric Dysplasia

Diseases related to Acromicric Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 geleophysic dwarfism 10.9
2 geleophysic dysplasia 10.1

Symptoms & Phenotypes for Acromicric Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
long eyelashes
well-defined eyebrows

Head And Neck- Nose:
anteverted nostrils
bulbous nose

Skeletal- Hands:
short hands
short, stubby metacarpals
short, stubby phalanges
second metacarpal notched proximally on radial side
fifth metacarpal notched on ulnar side

Head And Neck- Face:
round face
long philtrum
prominent philtrum
mild facial anomalies

Skeletal- Limbs:
cone-shaped epiphyses
shortened long tubular bones
internal notch of femoral head

Skeletal- Feet:
short feet

Growth- Height:
short stature, severe

Laboratory- Abnormalities:
growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

Head And Neck- Eyes:
long eyelashes
well-defined eyebrows

Skeletal:
delayed bone age

Head And Neck- Mouth:
thick lips
small mouth

Skeletal- Spine:
ovoid vertebral bodies

Skin Nails & Hair- Skin:
thick skin

Voice:
hoarse voice

Growth- Other:
pseudomuscular build


Clinical features from OMIM:

102370

Human phenotypes related to Acromicric Dysplasia:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 long eyelashes 32 hallmark (90%) HP:0000527
2 brachydactyly 32 hallmark (90%) HP:0001156
3 bulbous nose 32 frequent (33%) HP:0000414
4 round face 32 hallmark (90%) HP:0000311
5 short nose 32 hallmark (90%) HP:0003196
6 anteverted nares 32 hallmark (90%) HP:0000463
7 long philtrum 32 hallmark (90%) HP:0000343
8 deep philtrum 32 HP:0002002
9 joint stiffness 32 occasional (7.5%) HP:0001387
10 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
11 decreased nerve conduction velocity 32 frequent (33%) HP:0000762
12 ovoid vertebral bodies 32 occasional (7.5%) HP:0003300
13 hoarse voice 32 occasional (7.5%) HP:0001609
14 thick lower lip vermilion 32 frequent (33%) HP:0000179
15 short metacarpal 32 occasional (7.5%) HP:0010049
16 thickened skin 32 HP:0001072
17 narrow mouth 32 frequent (33%) HP:0000160
18 small hand 32 hallmark (90%) HP:0200055
19 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
20 short palm 32 hallmark (90%) HP:0004279
21 cone-shaped epiphysis 32 HP:0010579
22 short long bone 32 HP:0003026
23 short foot 32 HP:0001773
24 abnormality of the eyebrow 32 hallmark (90%) HP:0000534
25 severe short stature 32 hallmark (90%) HP:0003510
26 short phalanx of finger 32 HP:0009803
27 fifth metacarpal with ulnar notch 32 occasional (7.5%) HP:0005900
28 abnormality of femur morphology 32 occasional (7.5%) HP:0002823

UMLS symptoms related to Acromicric Dysplasia:


hoarseness, thick skin

Drugs & Therapeutics for Acromicric Dysplasia

Search Clinical Trials , NIH Clinical Center for Acromicric Dysplasia

Genetic Tests for Acromicric Dysplasia

Genetic tests related to Acromicric Dysplasia:

id Genetic test Affiliating Genes
1 Acromicric Dysplasia 29 24 FBN1

Anatomical Context for Acromicric Dysplasia

MalaCards organs/tissues related to Acromicric Dysplasia:

39
Bone, Skin

Publications for Acromicric Dysplasia

Articles related to Acromicric Dysplasia:

id Title Authors Year
1
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. ( 27834076 )
2017
2
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. ( 27245183 )
2016
3
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
4
Orthopedics management of acromicric dysplasia: Follow up of nine patients. ( 24339047 )
2014
5
Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia. ( 23027497 )
2012
6
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. ( 11694546 )
2001
7
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
8
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? ( 2732993 )
1989
9
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
10
Acromicric dysplasia. ( 3728563 )
1986

Variations for Acromicric Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Acromicric Dysplasia:

71
id Symbol AA change Variation ID SNP ID
1 FBN1 p.Tyr1699Cys VAR_066528
2 FBN1 p.Tyr1700Cys VAR_066530
3 FBN1 p.Met1714Arg VAR_066532
4 FBN1 p.Ser1722Cys VAR_066534
5 FBN1 p.Gly1726Val VAR_066535
6 FBN1 p.Ala1728Thr VAR_066536
7 FBN1 p.Ser1750Arg VAR_066540
8 FBN1 p.Asp1758Val VAR_066541

ClinVar genetic disease variations for Acromicric Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs387906622 GRCh37 Chromosome 15, 48755407: 48755407
2 FBN1 NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr) single nucleotide variant Pathogenic rs387906624 GRCh37 Chromosome 15, 48755321: 48755321
3 FBN1 NM_000138.4(FBN1): c.5250T> G (p.Ser1750Arg) single nucleotide variant Pathogenic rs1131692052 GRCh37 Chromosome 15, 48752489: 48752489
4 FBN1 NM_000138.4(FBN1): c.5099A> G (p.Tyr1700Cys) single nucleotide variant Pathogenic rs387906626 GRCh37 Chromosome 15, 48755404: 48755404
5 FBN1 NM_000138.4(FBN1): c.5202_5204dupACA (p.Gln1735_Cys1736insGln) duplication Pathogenic rs587776863 GRCh38 Chromosome 15, 48463102: 48463104

Expression for Acromicric Dysplasia

Search GEO for disease gene expression data for Acromicric Dysplasia.

Pathways for Acromicric Dysplasia

GO Terms for Acromicric Dysplasia

Sources for Acromicric Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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