MCID: MTP004
MIFTS: 23

Metaphyseal Acroscyphodysplasia

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metaphyseal Acroscyphodysplasia

MalaCards integrated aliases for Metaphyseal Acroscyphodysplasia:

Name: Metaphyseal Acroscyphodysplasia 57 20 58 70
Cupped Metaphyses and Cone-Shaped Epiphyses of Knees with Brachydactyly 57 20
Bellini Chiumello Rimoldi Syndrome 20 70
Wedge-Shaped Epiphyses of Knees 57 20
Bellini Syndrome 20 58
Intellectual Disability-Short Stature-Wedge-Shaped Epiphyses of Knees Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
metaphyseal acroscyphodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
metaphyseal acroscyphodysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 250215
MESH via Orphanet 45 C537350
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 71 C1855243
Orphanet 58 ORPHA1240
MedGen 41 C1855243
UMLS 70 C1855243 C2930968

Summaries for Metaphyseal Acroscyphodysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1240 Definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.

MalaCards based summary : Metaphyseal Acroscyphodysplasia, also known as cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly, is related to coloboma of macula and telecanthus. Affiliated tissues include bone, and related phenotypes are abnormality of the metaphysis and short toe

More information from OMIM: 250215

Related Diseases for Metaphyseal Acroscyphodysplasia

Diseases related to Metaphyseal Acroscyphodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.1
2 telecanthus 10.1
3 brachydactyly 10.1

Symptoms & Phenotypes for Metaphyseal Acroscyphodysplasia

Human phenotypes related to Metaphyseal Acroscyphodysplasia:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
2 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
7 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
8 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
9 cone-shaped metacarpal epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0006059
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
12 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
13 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
14 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
17 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
18 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
21 bowing of the long bones 58 Very frequent (99-80%)
22 thickened calvaria 31 HP:0002684
23 anteverted nares 31 HP:0000463
24 abnormality of femur morphology 58 Very frequent (99-80%)
25 platyspondyly 31 HP:0000926
26 malar flattening 31 HP:0000272
27 craniosynostosis 31 HP:0001363
28 short finger 31 HP:0009381
29 midface retrusion 31 HP:0011800
30 abnormal diaphysis morphology 58 Very frequent (99-80%)
31 short metacarpal 31 HP:0010049
32 cone-shaped epiphysis 58 Very frequent (99-80%)
33 narrow pelvis bone 31 HP:0003275
34 short palm 31 HP:0004279
35 hypoplasia of the odontoid process 31 HP:0003311
36 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
37 biconcave vertebral bodies 31 HP:0004586
38 short phalanx of finger 31 HP:0009803
39 tibial bowing 31 HP:0002982
40 short humerus 31 HP:0005792
41 metaphyseal widening 31 HP:0003016
42 metaphyseal cupping 31 HP:0003021
43 irregular phalanges 31 HP:0006205

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
platyspondyly
biconcave vertebral bodies
odontoid hypoplasia

Head And Neck Nose:
anteverted nares
broad nasal root

Head And Neck Eyes:
telecanthus
epicanthal folds

Skeletal:
advanced bone age

Growth Height:
short stature, severe

Skeletal Feet:
short toes

Skeletal Skull:
thickened calvaria
craniosynostosis
elongated posterior clinoid processes

Head And Neck Face:
prominent forehead
flat face
midface hypoplasia

Skeletal Limbs:
tibial bowing
metaphyseal widening
genu vara
micromelia (especially lower limbs)
distal femoral and proximal tibial cup-shaped epiphyses
more
Skeletal Hands:
short metacarpals
short hands
severe brachydactyly
phalangeal cone-shaped epiphyses
metacarpal cone-shaped epiphyses
more
Neurologic Central Nervous System:
mental retardation

Skeletal Pelvis:
narrow pelvis
progressive coxa valga

Clinical features from OMIM®:

250215 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metaphyseal Acroscyphodysplasia

Search Clinical Trials , NIH Clinical Center for Metaphyseal Acroscyphodysplasia

Genetic Tests for Metaphyseal Acroscyphodysplasia

Anatomical Context for Metaphyseal Acroscyphodysplasia

MalaCards organs/tissues related to Metaphyseal Acroscyphodysplasia:

40
Bone

Publications for Metaphyseal Acroscyphodysplasia

Articles related to Metaphyseal Acroscyphodysplasia:

# Title Authors PMID Year
1
Dutch variant of Bellini metaphyseal dysplasia: report of two siblings. 57 61
7487766 1995
2
Metaphyseal acroscyphodysplasia. 57 61
1860252 1991
3
Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare dysplasia? 57
6543849 1984
4
Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia. 61
33583233 2021
5
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. 61
25044890 2014
6
Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia). 61
18978659 2008

Variations for Metaphyseal Acroscyphodysplasia

Expression for Metaphyseal Acroscyphodysplasia

Search GEO for disease gene expression data for Metaphyseal Acroscyphodysplasia.

Pathways for Metaphyseal Acroscyphodysplasia

GO Terms for Metaphyseal Acroscyphodysplasia

Sources for Metaphyseal Acroscyphodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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