MCID: MSM004
MIFTS: 27

Mesomelia-Synostoses Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mesomelia-Synostoses Syndrome

MalaCards integrated aliases for Mesomelia-Synostoses Syndrome:

Name: Mesomelia-Synostoses Syndrome 57 20 58 13 39 70
Mesomelic Dysplasia with Acral Synostoses, Verloes-David-Pfeiffer Type 57 58
Verloes-David Syndrome 20 58
Dominant Mesomelic Shortness of Stature with Acral Synostoses, Umbilical Anomalies, and Soft Palate Agenesis 20
Mesomelia-Synostoses Syndrome, Verloes-David-Pfeiffer Type 58
Chromosome 8q13 Deletion Syndrome 57
Mesomelic Dysplasia, Syndromic 57
8q13 Microdeletion Syndrome 58
Mesomelia Synostoses 20
Monosomy 8q13 58
Del(8)q(13) 58

Characteristics:

Orphanet epidemiological data:

58
mesomelia-synostoses syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
mesomelia-synostoses syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Mesomelia-Synostoses Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2496 Definition Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. Epidemiology To date 5 unrelated patients have been reported, including one family with multiple affected persons. Clinical description In contrast to other mesomelic syndromes, MSS mostly manifests in postnatal life and has a slow progressive clinical course at least until adulthood (when skeletal growth has ceased). Craniofacial features include downslanted palpebral fissures, eyelid ptosis, telecanthus, soft palate hypoplasia with absent uvula (atypical posterior cleft palate ) and mild micrognathia. Nasal speech is common. Skeletal anomalies comprise mild shortness of stature, progressive restriction of joint mobility, mesomelic bowing and shortening in upper and lower forelimbs, brachydactyly, ulnar deviation of the hands with a longest 2nd digit and clinodactyly of the 5th digit, narrow short feet, disproportionate brachydactyly of toes on the fibular side, and dysfunctional ankle joints. MSS patients may present with complex congenital heart defects, congenital hydronephrosis, unusual skin coverage on the umbilical cord stump, myopia, short sublingual frenulum and progressive hearing loss. Cognitive development is normal. Radiological anomalies include brachymetacarpalia and brachymetatarsalia of 3rd to 5th digits, synostoses between these bones, synostoses between metacarpals and metatarsals II to V and corresponding carpal/tarsal bones, partial fusion of carpal and tarsal bones, mild bowing of distal part of femora, and mild vertebral anomalies. Etiology MSS is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes : SULF1 and SLCO5A1. Reported deletion sizes vary from 582Kb to 738 Kb. MSS is likely to represent a contiguous gene deletion syndrome. There is no disorder linked to point mutations of these genes. Diagnostic methods Diagnosis is suspected on the basis of clinical and radiological findings and is confirmed by cytogenetic analysis (array CGH, FISH). Differential diagnosis Radiologically, Kantaputra type mesomelic dysplasia (due to duplications of the HOXD locus on chromosome 2q; see this term) show very similar acral anomalies. Other rare mesomelic dysplasias, i.e., Langer mesomelic dysplasia or Fryns type micromelic dwarfism (see these terms) are not associated with synostoses. Syndromes with synostoses i.e. Nievergelt syndrome, proximal symphalangism, Osebold-Remondini syndrome and multiple synostoses (see these terms) have different associated anomalies. Antenatal diagnosis Prenatal diagnosis of 8q13 microdeletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Preimplantation genetic diagnosis is available for at high risk couples. Bone anomalies are progressive and may be undetected on routine ultrasound scan. Genetic counseling MSS is transmitted as an autosomal dominant trait. When a parent is affected with MMS, recurrence risk is 50%. Management and treatment Early diagnosis of MMS allows for more personalized surveillance and treatment. The life progressive course of MMS requires regular follow-up by appropriate specialists including a pediatric orthopedic surgeon to address the progressive deformities and functional restrictions in upper and lower limbs, maxillofacial surgery for palatal anomalies. Hearing loss must be monitored. Prognosis Life expectancy is unknown, but clinical manifestations appear to remain stable in adulthood.

MalaCards based summary : Mesomelia-Synostoses Syndrome, also known as mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type, is related to mesomelia and dysostosis. An important gene associated with Mesomelia-Synostoses Syndrome is DEL8Q13 (Mesomelia-Synostoses Syndrome). Affiliated tissues include heart, and related phenotypes are ptosis and skeletal dysplasia

OMIM® : 57 The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232). (600383) (Updated 05-Apr-2021)

Related Diseases for Mesomelia-Synostoses Syndrome

Diseases related to Mesomelia-Synostoses Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mesomelia 29.2 SULF1 SLCO5A1 DEL8Q13
2 dysostosis 10.7
3 pfeiffer syndrome 10.6
4 hypertelorism 10.6
5 odontochondrodysplasia 10.6
6 ptosis 10.6
7 mesomelic dysplasia, kantaputra type 10.2
8 trichorhinophalangeal syndrome, type ii 10.1
9 chromosome 2q35 duplication syndrome 10.1

Graphical network of the top 20 diseases related to Mesomelia-Synostoses Syndrome:



Diseases related to Mesomelia-Synostoses Syndrome

Symptoms & Phenotypes for Mesomelia-Synostoses Syndrome

Human phenotypes related to Mesomelia-Synostoses Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
9 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
10 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
11 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
12 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
13 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
14 ulnar deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009465
15 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
16 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
17 aplasia/hypoplasia of the uvula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010293
18 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
19 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
20 metatarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001440
21 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
22 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
23 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
24 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
25 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
26 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
27 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
28 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
29 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
30 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
31 abnormality of the ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003028
32 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
33 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
34 abnormal oral frenulum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000190
35 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
36 abnormal eyebrow morphology 31 occasional (7.5%) HP:0000534
37 short umbilical cord 31 very rare (1%) HP:0001196
38 hypertelorism 31 HP:0000316
39 synostosis of joints 58 Very frequent (99-80%)
40 abnormal vertebral morphology 31 HP:0003468
41 nasal speech 31 HP:0001611
42 abnormality of the foot 58 Very frequent (99-80%)
43 microretrognathia 31 HP:0000308
44 abnormality of the eyebrow 58 Occasional (29-5%)
45 abnormality of the wrist 58 Very frequent (99-80%)
46 abnormality of the hand 58 Very frequent (99-80%)
47 abnormality of the knee 58 Occasional (29-5%)
48 mesomelic short stature 31 HP:0008845
49 metacarpal synostosis 31 HP:0009701
50 ulnar deviation of the hand 31 HP:0009487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures

Voice:
nasal speech

Skeletal Limbs:
partial fusion of proximal row of carpal bones
short limbs
progressive forearm curvature

Skeletal Feet:
short feet
narrow feet
dysfunctional ankle joints
brachymetatarsy rays 3-5
metatarsal synostoses (2 to 5)

Growth Height:
short stature, mesomelic

Skeletal:
limited range of motion in joints

Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord with unusually long skin coverage (in 3 of 5 patients)

Genitourinary Kidneys:
hydronephrosis

Head And Neck Mouth:
microretrognathia
absent uvula
hypoplasia of the soft palate

Head And Neck Nose:
beaked nose

Skeletal Hands:
ulnar deviation of hands
brachymetacarpy rays 3-5
metacarpal synostosis (2 to 5)

Cardiovascular Heart:
complex congenital heart defect (in 2 of 5 patients, unrelated)

Skeletal Spine:
mild vertebral anomalies

Clinical features from OMIM®:

600383 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mesomelia-Synostoses Syndrome

Search Clinical Trials , NIH Clinical Center for Mesomelia-Synostoses Syndrome

Genetic Tests for Mesomelia-Synostoses Syndrome

Anatomical Context for Mesomelia-Synostoses Syndrome

MalaCards organs/tissues related to Mesomelia-Synostoses Syndrome:

40
Heart

Publications for Mesomelia-Synostoses Syndrome

Articles related to Mesomelia-Synostoses Syndrome:

# Title Authors PMID Year
1
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. 57 61
20602915 2010
2
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. 57 61
19725128 2009
3
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. 57
12687887 2003
4
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome? 57
9856555 1998
5
Specific acromesomelia with facial and renal anomalies: a new syndrome. 57
7735504 1995
6
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. 57
7717419 1995
7
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene. 61
30450550 2019
8
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. 61
28328141 2017
9
Sulfate in fetal development. 61
21419855 2011

Variations for Mesomelia-Synostoses Syndrome

Expression for Mesomelia-Synostoses Syndrome

Search GEO for disease gene expression data for Mesomelia-Synostoses Syndrome.

Pathways for Mesomelia-Synostoses Syndrome

GO Terms for Mesomelia-Synostoses Syndrome

Sources for Mesomelia-Synostoses Syndrome

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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