THREE M SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: M SYNDROME 3
3M3
3&#64
Number of Symptoms 24
OrphanetNr:
OMIM Id: 614205
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:0004322) Short stature 1232 / 7739
2
 (HPO:0004325) Decreased body weight 492 / 7739
3
 (HPO:0001518) Small for gestational age 107 / 7739
4
 (HPO:0001385) Hip dysplasia 242 / 7739
5
 (HPO:0000268) Dolichocephaly 144 / 7739
6
 (HPO:0002007) Frontal bossing 366 / 7739
7
 (HPO:0010306) Short thorax 10 / 7739
8
 (HPO:0004570) Increased vertebral height 6 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0003307) Hyperlordosis 122 / 7739
11
 (HPO:0003100) Slender long bone 45 / 7739
12
 (HPO:0000272) Malar flattening 277 / 7739
13
 (HPO:0011800) Midface retrusion 221 / 7739
14
 (HPO:0000307) Pointed chin 45 / 7739
15
 (HPO:0000325) Triangular face 91 / 7739
16
 (HPO:0000463) Anteverted nares 305 / 7739
17
 (HPO:0000411) Protruding ear 140 / 7739
18
 (HPO:0001510) Growth delay 295 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Fleshy lips 1 / 7739
21
 (OMIM) Fleshy tipped nose 1 / 7739
22
 (OMIM) Prominent heel 5 / 7739
23
 (OMIM) Square shoulders 1 / 7739
24
 (OMIM) Transverse chest groove 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., ...
Clinical Description OMIM Hanson et al. (2011) described 5 unrelated probands, all born of consanguineous Asian parents, with 3M syndrome. All had poor growth, fleshy tipped nose, short thorax, and prominent heels. More variable, but common features included anteverted nares, triangular ...
Molecular genetics OMIM By autozygosity mapping followed by exome sequencing of 3 Asian patients with 3M syndrome-3, Hanson et al. (2011) identified 2 different homozygous 1-bp duplications in the CCDC8 gene (614145.0001 and 614145.0002). Both mutations were predicted to result in ...