MCID: MSM004
MIFTS: 29

Mesomelia-Synostoses Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelia-Synostoses Syndrome

MalaCards integrated aliases for Mesomelia-Synostoses Syndrome:

Name: Mesomelia-Synostoses Syndrome 57 53 59 29 13 40 73
Mesomelic Dysplasia with Acral Synostoses, Verloes-David-Pfeiffer Type 57 59
Verloes-David Syndrome 53 59
Dominant Mesomelic Shortness of Stature with Acral Synostoses, Umbilical Anomalies, and Soft Palate Agenesis 53
Mesomelia-Synostoses Syndrome, Verloes-David-Pfeiffer Type 59
Chromosome 8q13 Deletion Syndrome 57
Mesomelic Dysplasia, Syndromic 57
8q13 Microdeletion Syndrome 59
Mesomelia Synostoses 53
Monosomy 8q13 59
Del(8)q(13) 59

Characteristics:

Orphanet epidemiological data:

59
mesomelia-synostoses syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mesomelia-synostoses syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mesomelia-Synostoses Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2496Disease definitionMesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous genedeletion 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.EpidemiologyTo date 5 unrelated patients have been reported, including one family with multiple affected persons.Clinical descriptionIn 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.EtiologyMSS 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 methodsDiagnosis is suspected on the basis of clinical and radiological findings and is confirmed by cytogenetic analysis (array CGH, FISH).Differential diagnosisRadiologically, 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 diagnosisPrenatal 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 counselingMSS is transmitted as an autosomal dominanttrait. When a parent is affected with MMS, recurrence risk is 50%.Management and treatmentEarly 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.PrognosisLife expectancy is unknown, but clinical manifestations appear to remain stable in adulthood.Visit the Orphanet disease page for more resources.

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

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)

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 27.8 DEL8Q13 SLCO5A1 SULF1
2 langer mesomelic dysplasia 11.1

Symptoms & Phenotypes for Mesomelia-Synostoses Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

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)

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)

Voice:
nasal speech

Genitourinary Kidneys:
hydronephrosis

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

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

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

Skeletal Spine:
mild vertebral anomalies


Clinical features from OMIM:

600383

Human phenotypes related to Mesomelia-Synostoses Syndrome:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
7 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
10 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
13 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
14 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
15 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
16 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
17 abnormality of femur morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002823
18 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
19 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
20 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
21 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
22 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
23 abnormality of the ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0003028
24 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
25 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
26 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
27 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
28 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
29 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
30 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
31 aplasia/hypoplasia of the uvula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010293
32 mesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003027
33 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
34 metatarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001440
35 hypertelorism 32 HP:0000316
36 synostosis of joints 59 Very frequent (99-80%)
37 abnormal vertebral morphology 32 HP:0003468
38 abnormality of the foot 59 Very frequent (99-80%)
39 abnormality of the eyebrow 59 Occasional (29-5%)
40 nasal speech 32 HP:0001611
41 abnormality of the hand 59 Very frequent (99-80%)
42 microretrognathia 32 HP:0000308
43 abnormality of oral frenula 59 Occasional (29-5%)
44 abnormality of the wrist 59 Very frequent (99-80%)
45 abnormality of the knee 59 Occasional (29-5%)
46 metacarpal synostosis 32 HP:0009701
47 mesomelic short stature 32 HP:0008845
48 short umbilical cord 32 very rare (1%) HP:0001196
49 absent uvula 32 HP:0010292
50 partial fusion of proximal row of carpal bones 32 HP:0005694

Drugs & Therapeutics for Mesomelia-Synostoses Syndrome

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

Genetic Tests for Mesomelia-Synostoses Syndrome

Genetic tests related to Mesomelia-Synostoses Syndrome:

# Genetic test Affiliating Genes
1 Mesomelia-Synostoses Syndrome 29

Anatomical Context for Mesomelia-Synostoses Syndrome

MalaCards organs/tissues related to Mesomelia-Synostoses Syndrome:

41
Heart, Bone, Skin

Publications for Mesomelia-Synostoses Syndrome

Articles related to Mesomelia-Synostoses Syndrome:

# Title Authors Year
1
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. ( 20602915 )
2010

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 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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