Mesomelia-synostoses syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIC DYSPLASIA, SYNDROMIC
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Monosomy 8q13
Verloes-David syndrome
8q13 microdeletion syndrome
CHROMOSOME 8q13 DELETION SYNDROME
Del(8)q(13)
mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type
Number of Symptoms 67
OrphanetNr: 2496
OMIM Id: 600383
ICD-10: Q74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acromesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
5
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
8
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
9
 (HPO:0000534) Abnormality of the eyebrow Occasional [Orphanet] 39 / 7739
10
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
12
 (HPO:0000308) Microretrognathia 78 / 7739
13
 (HPO:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
14
 (HPO:0010293) Aplasia/Hypoplasia of the uvula Very frequent [Orphanet] 3 / 7739
15
 (HPO:0000325) Triangular face Occasional [Orphanet] 91 / 7739
16
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
17
 (HPO:0010292) Absent uvula 2 / 7739
18
 (HPO:0000316) Hypertelorism 644 / 7739
19
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
20
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
21
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
22
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
23
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
24
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
25
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
26
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
27
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
28
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
29
 (HPO:0002983) Micromelia 130 / 7739
30
 (HPO:0005694) Partial fusion of proximal row of carpal bones 1 / 7739
31
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
32
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
33
 (HPO:0003028) Abnormality of the ankles Occasional [Orphanet] 14 / 7739
34
 (HPO:0009701) Metacarpal synostosis 4 / 7739
35
 (HPO:0005891) Progressive forearm bowing 1 / 7739
36
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
37
 (HPO:0001760) Abnormality of the foot Very frequent [Orphanet] 96 / 7739
38
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
39
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
40
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
41
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
42
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
43
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
44
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
45
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
46
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
47
 (HPO:0002815) Abnormality of the knee Occasional [Orphanet] 19 / 7739
48
 (HPO:0001786) Narrow foot 11 / 7739
49
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
50
 (HPO:0001196) Short umbilical cord 3/5 [HPO:probinson] 4 / 7739
51
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
52
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
53
 (HPO:0008845) Mesomelic short stature 5 / 7739
54
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
55
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
56
 (HPO:0001611) Nasal speech 48 / 7739
57
 (OMIM) Hypoplasia of the soft palate 1 / 7739
58
 (OMIM) Short limbs 17 / 7739
59
 (OMIM) Metatarsal synostoses (2 to 5) 1 / 7739
60
 (OMIM) Limited range of motion in joints 1 / 7739
61
 (OMIM) Brachymetacarpy rays 3-5 1 / 7739
62
 (OMIM) Mild vertebral anomalies 1 / 7739
63
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
64
 (OMIM) Short umbilical cord with unusually long skin coverage (in 3 of 5 patients) 1 / 7739
65
 (OMIM) Brachymetatarsy rays 3-5 1 / 7739
66
 (OMIM) Complex congenital heart defect 3 / 7739
67
 (OMIM) Dysfunctional ankle joints 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Verloes and David (1995) described a seemingly 'new' dominantly inherited form of mesomelic shortness of stature with severe skeletal changes in the ankles, knees, and elbows. The father and 2 children (a living 4-year-old girl and an aborted ...
Molecular genetics OMIM Using whole-genome oligonucleotide array CGH, Isidor et al. (2010) identified a microdeletion on chromosome 8q13 in each of 5 patients with the mesomelia-synostosis syndrome from 4 previously reported families (Verloes and David, 1995; Pfeiffer et al., 1995; Day-Salvatore ...