SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 40
OrphanetNr:
OMIM Id: 613320
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing 366 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0003196) Short nose 264 / 7739
4
 (HPO:0002645) Wormian bones 65 / 7739
5
 (HPO:0002002) Deep philtrum 42 / 7739
6
 (HPO:0000239) Large fontanelles 135 / 7739
7
 (HPO:0011220) Prominent forehead 137 / 7739
8
 (HPO:0000311) Round face 104 / 7739
9
 (HPO:0000463) Anteverted nares 305 / 7739
10
 (HPO:0005280) Depressed nasal bridge 381 / 7739
11
 (HPO:0008551) Microtia 98 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0003021) Metaphyseal cupping 16 / 7739
15
 (HPO:0000773) Short ribs 70 / 7739
16
 (HPO:0003026) Short long bone 51 / 7739
17
 (HPO:0003175) Hypoplastic ischia 12 / 7739
18
 (HPO:0001591) Bell-shaped thorax 35 / 7739
19
 (HPO:0002983) Micromelia 130 / 7739
20
 (HPO:0003177) Squared iliac bones 7 / 7739
21
 (HPO:0000774) Narrow chest 167 / 7739
22
 (HPO:0004565) Severe platyspondyly 13 / 7739
23
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
24
 (HPO:0008786) Iliac crest serration 4 / 7739
25
 (HPO:0001518) Small for gestational age 107 / 7739
26
 (HPO:0004322) Short stature 1232 / 7739
27
 (HPO:0002092) Pulmonary hypertension 109 / 7739
28
 (HPO:0001640) Cardiomegaly 81 / 7739
29
 (HPO:0002789) Tachypnea 48 / 7739
30
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
31
 (OMIM) Prominent abdomen 7 / 7739
32
 (OMIM) Horizontal acetabula with medial and lateral spurs 1 / 7739
33
 (OMIM) Increased nasal width 1 / 7739
34
 (OMIM) Cupped end ribs 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Wide nostrils 2 / 7739
37
 (OMIM) Absence of epiphyseal ossification of the knees 1 / 7739
38
 (OMIM) Short limbs 17 / 7739
39
 (OMIM) Slight widening of the distal femoral metaphyses 1 / 7739
40
 (OMIM) Pre- and postnatal short stature 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Megarbane et al. (2008) described a consanguineous Lebanese family in which a sister and a brother had chondrodysplasia, developmental delay, severe pre- and postnatal short stature, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. Neonatal radiographs ...