MCID: ACR002
MIFTS: 26

Acrocapitofemoral Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Acrocapitofemoral Dysplasia

MalaCards integrated aliases for Acrocapitofemoral Dysplasia:

Name: Acrocapitofemoral Dysplasia 57 12 53 59 75 37 29 13 6 15 40 73
Acfd 57 53 75
Bone Diseases, Developmental 44

Characteristics:

Orphanet epidemiological data:

59
acrocapitofemoral dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to brachydactyly, type a1
cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty


HPO:

32
acrocapitofemoral dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrocapitofemoral Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 63446Disease definitionAcrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.EpidemiologyIt has been described in 5 individuals in 2 families.Clinical descriptionAffected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.EtiologyHomozygousmutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.Genetic counselingThe condition is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocapitofemoral Dysplasia, also known as acfd, is related to skeletal dysplasias and brachydactyly, type a1. An important gene associated with Acrocapitofemoral Dysplasia is IHH (Indian Hedgehog), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include bone, and related phenotypes are macrocephaly and pectus excavatum

UniProtKB/Swiss-Prot : 75 Acrocapitofemoral dysplasia: An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

Description from OMIM: 607778

Related Diseases for Acrocapitofemoral Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 10.0
2 brachydactyly, type a1 9.0 IHH MIR3131

Symptoms & Phenotypes for Acrocapitofemoral Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
rib cupping

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)
short middle and distal phalanges

Skeletal Pelvis:
coxa vara
short femoral neck
cone-shaped epiphyses (proximal femur)
egg-shaped femoral head
short, flared iliac wings

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Nails:
broad fingernails
small finger nails

Skeletal Feet:
cone-shaped epiphyses (ankles)

Skeletal Spine:
ovoid vertebral bodies
lumbar hyperlordosis
anterior notching of vertebral bodies

Skeletal Limbs:
genu varum
short limbs
cone-shaped epiphyses (proximal and distal tibia)
varus deformity (humeral head)
large distal femoral epiphyses

Growth Height:
normal birth length
short-limbed dwarfism
short stature, disproportionate

Chest External Features:
narrow thorax

Head And Neck Head:
relatively large head


Clinical features from OMIM:

607778

Human phenotypes related to Acrocapitofemoral Dysplasia:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
7 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
10 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
11 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
13 short thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010306
14 small nail 59 32 frequent (33%) Frequent (79-30%) HP:0001792
15 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
16 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
17 broad nail 59 32 frequent (33%) Frequent (79-30%) HP:0001821
18 flared iliac wings 59 32 frequent (33%) Frequent (79-30%) HP:0002869
19 cone-shaped metacarpal epiphyses 59 32 frequent (33%) Frequent (79-30%) HP:0006059
20 cone-shaped epiphysis 59 Very frequent (99-80%)
21 enlargement of the distal femoral epiphysis 32 HP:0006438
22 hypoplastic iliac wing 32 HP:0002866
23 brachydactyly 32 HP:0001156
24 disproportionate short-limb short stature 32 HP:0008873
25 short distal phalanx of finger 32 HP:0009882
26 hypoplasia of the ulna 32 HP:0003022
27 short metacarpal 32 HP:0010049
28 hypoplasia of the radius 32 HP:0002984
29 cupped ribs 32 HP:0000887
30 disproportionate short stature 32 HP:0003498
31 relative macrocephaly 32 HP:0004482
32 lumbar hyperlordosis 32 HP:0002938
33 short tibia 32 HP:0005736
34 short humerus 32 HP:0005792
35 abnormality of the femoral neck 59 Very frequent (99-80%)
36 short femur 32 HP:0003097
37 short ribs 32 HP:0000773
38 short femoral neck 32 HP:0100864
39 fibular overgrowth 32 HP:0003099
40 delayed ossification of carpal bones 32 HP:0001216
41 short proximal phalanx of thumb 32 HP:0009638
42 short proximal phalanx of finger 32 HP:0010241
43 cone-shaped capital femoral epiphysis 32 HP:0008789
44 cone-shaped epiphysis of the 1st metacarpal 32 HP:0010017
45 dysplasia of the femoral head 32 HP:0010575

Drugs & Therapeutics for Acrocapitofemoral Dysplasia

Search Clinical Trials , NIH Clinical Center for Acrocapitofemoral Dysplasia

Cochrane evidence based reviews: bone diseases, developmental

Genetic Tests for Acrocapitofemoral Dysplasia

Genetic tests related to Acrocapitofemoral Dysplasia:

# Genetic test Affiliating Genes
1 Acrocapitofemoral Dysplasia 29 IHH

Anatomical Context for Acrocapitofemoral Dysplasia

MalaCards organs/tissues related to Acrocapitofemoral Dysplasia:

41
Bone

Publications for Acrocapitofemoral Dysplasia

Articles related to Acrocapitofemoral Dysplasia:

# Title Authors Year
1
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. ( 12632327 )
2003
2
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. ( 12624140 )
2003

Variations for Acrocapitofemoral Dysplasia

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

75
# Symbol AA change Variation ID SNP ID
1 IHH p.Pro46Leu VAR_015981 rs121917856
2 IHH p.Val190Ala VAR_015986 rs121917857

ClinVar genetic disease variations for Acrocapitofemoral Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IHH NM_002181.3(IHH): c.137C> T (p.Pro46Leu) single nucleotide variant Pathogenic rs121917856 GRCh37 Chromosome 2, 219925053: 219925053
2 IHH NM_002181.3(IHH): c.137C> T (p.Pro46Leu) single nucleotide variant Pathogenic rs121917856 GRCh38 Chromosome 2, 219060331: 219060331
3 IHH NM_002181.3(IHH): c.569T> C (p.Val190Ala) single nucleotide variant Pathogenic rs121917857 GRCh37 Chromosome 2, 219922163: 219922163
4 IHH NM_002181.3(IHH): c.569T> C (p.Val190Ala) single nucleotide variant Pathogenic rs121917857 GRCh38 Chromosome 2, 219057441: 219057441

Expression for Acrocapitofemoral Dysplasia

Search GEO for disease gene expression data for Acrocapitofemoral Dysplasia.

Pathways for Acrocapitofemoral Dysplasia

Pathways related to Acrocapitofemoral Dysplasia according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Acrocapitofemoral Dysplasia

Sources for Acrocapitofemoral Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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