SMDCD
MCID: SPN446
MIFTS: 21

Spondylometaphyseal Dysplasia with Corneal Dystrophy (SMDCD)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia with Corneal Dystrophy

MalaCards integrated aliases for Spondylometaphyseal Dysplasia with Corneal Dystrophy:

Name: Spondylometaphyseal Dysplasia with Corneal Dystrophy 57 72
Smdcd 57 72
Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome 58
Smd-Corneal Dystrophy Syndrome 58

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 2 male cousins from a consanguineous emirati family (last curated july 2020)


HPO:

31
spondylometaphyseal dysplasia with corneal dystrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylometaphyseal Dysplasia with Corneal Dystrophy

OMIM® : 57 Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018). (618961) (Updated 05-Apr-2021)

MalaCards based summary : Spondylometaphyseal Dysplasia with Corneal Dystrophy, also known as smdcd, is related to spondyloepimetaphyseal dysplasia, strudwick type and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Spondylometaphyseal Dysplasia with Corneal Dystrophy is PLCB3 (Phospholipase C Beta 3). Affiliated tissues include eye and bone, and related phenotypes are depressed nasal bridge and corneal opacity

UniProtKB/Swiss-Prot : 72 Spondylometaphyseal dysplasia with corneal dystrophy: An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability.

Related Diseases for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Diseases related to Spondylometaphyseal Dysplasia with Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 corneal dystrophy 10.2

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Human phenotypes related to Spondylometaphyseal Dysplasia with Corneal Dystrophy:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 very rare (1%) HP:0005280
2 corneal opacity 31 very rare (1%) HP:0007957
3 hypertelorism 31 very rare (1%) HP:0000316
4 short nose 31 very rare (1%) HP:0003196
5 beaking of vertebral bodies 31 very rare (1%) HP:0004568
6 anteverted nares 31 very rare (1%) HP:0000463
7 neonatal hypotonia 31 very rare (1%) HP:0001319
8 neonatal respiratory distress 31 very rare (1%) HP:0002643
9 brachydactyly 31 very rare (1%) HP:0001156
10 patent ductus arteriosus 31 very rare (1%) HP:0001643
11 proptosis 31 very rare (1%) HP:0000520
12 narrow chest 31 very rare (1%) HP:0000774
13 squared iliac bones 31 very rare (1%) HP:0003177
14 limb undergrowth 31 very rare (1%) HP:0009826
15 short long bone 31 very rare (1%) HP:0003026
16 short ribs 31 very rare (1%) HP:0000773
17 metaphyseal widening 31 very rare (1%) HP:0003016
18 increased intervertebral space 31 very rare (1%) HP:0030320
19 thoracic platyspondyly 31 very rare (1%) HP:0004592
20 lumbar platyspondyly 31 very rare (1%) HP:0005787
21 coarse metaphyseal trabecularization 31 very rare (1%) HP:0100670
22 severe global developmental delay 31 HP:0011344

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
depressed nasal bridge
short, upturned nose

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
small ribs
anterior widening of ribs

Chest External Features:
narrow thorax

Skeletal Hands:
shortened metacarpals

Skeletal Spine:
flat vertebrae
anterior beaking in thoracic and lumbar vertebrae
wide intervertebral spaces

Abdomen Gastrointestinal:
chronic gastroesophageal reflux

Muscle Soft Tissue:
hypotonia (at birth)

Head And Neck Eyes:
hypertelorism
corneal clouding
prominent eyes
vascularized corneal opacities
epithelialized surface of cornea

Neurologic Central Nervous System:
absent speech
developmental delay, severe

Respiratory Lung:
aspiration pneumonia
hypoplastic lungs
chronic respiratory failure

Skeletal:
generalized osteoporosis

Skeletal Limbs:
widened metaphyses
short long bones (proximal and distal segments)
coarse trabeculation of metaphyses
cupping of distal radius
cupping of distal ulna
more
Skeletal Feet:
shortened metatarsals
abnormal talus with spurs
abnormal calcaneus with spurs

Respiratory Airways:
laryngomalacia, mild

Skeletal Pelvis:
square short iliac bones with medial projection (snail-like appearance)
short irregular iliac wings
lace-like appearance of iliac wings

Clinical features from OMIM®:

618961 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Genetic Tests for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Anatomical Context for Spondylometaphyseal Dysplasia with Corneal Dystrophy

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia with Corneal Dystrophy:

40
Eye, Bone

Publications for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Articles related to Spondylometaphyseal Dysplasia with Corneal Dystrophy:

# Title Authors PMID Year
1
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. 61 57
29122926 2018
2
Mechanism of the allosteric regulation of Streptococcus mutans 2'-deoxycytidylate deaminase. 61
27377385 2016

Variations for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Expression for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia with Corneal Dystrophy.

Pathways for Spondylometaphyseal Dysplasia with Corneal Dystrophy

GO Terms for Spondylometaphyseal Dysplasia with Corneal Dystrophy

Sources for Spondylometaphyseal Dysplasia with Corneal Dystrophy

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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