THREE M SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: LE MERRER SYNDROME
DOLICHOSPONDYLIC DYSPLASIA
M SYNDROME
GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED
3M1
3&#64
Number of Symptoms 41
OrphanetNr:
OMIM Id: 273750
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:0000047) Hypospadias 250 / 7739
2
 (HPO:0008734) Decreased testicular size 105 / 7739
3
 (HPO:0000343) Long philtrum 262 / 7739
4
 (HPO:0000463) Anteverted nares 305 / 7739
5
 (HPO:0000268) Dolichocephaly 144 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0005280) Depressed nasal bridge 381 / 7739
8
 (HPO:0002007) Frontal bossing 366 / 7739
9
 (HPO:0000325) Triangular face 91 / 7739
10
 (HPO:0012471) Thick vermilion border 115 / 7739
11
 (HPO:0003298) Spina bifida occulta 67 / 7739
12
 (HPO:0004570) Increased vertebral height 6 / 7739
13
 (HPO:0000767) Pectus excavatum 244 / 7739
14
 (HPO:0009237) Short 5th finger 16 / 7739
15
 (HPO:0003307) Hyperlordosis 122 / 7739
16
 (HPO:0000773) Short ribs 70 / 7739
17
 (HPO:0003691) Scapular winging 51 / 7739
18
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
19
 (HPO:0001373) Joint dislocation 59 / 7739
20
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
21
 (HPO:0001382) Joint hypermobility 231 / 7739
22
 (HPO:0001763) Pes planus 176 / 7739
23
 (HPO:0002827) Hip dislocation 94 / 7739
24
 (HPO:0008897) Postnatal growth retardation 113 / 7739
25
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
26
 (HPO:0004322) Short stature 1232 / 7739
27
 (HPO:0001518) Small for gestational age 107 / 7739
28
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
29
 (OMIM) Full eyebrows 1 / 7739
30
 (OMIM) Hypoplastic midface 2 / 7739
31
 (OMIM) Long, slender tubular bones 1 / 7739
32
 (OMIM) Fleshy, upturned nose 1 / 7739
33
 (OMIM) Increased relative head circumference 1 / 7739
34
 (OMIM) Normal intelligence 81 / 7739
35
 (OMIM) Enlarged abdomen 1 / 7739
36
 (OMIM) Pointed, prominent chin 2 / 7739
37
 (OMIM) Short, wide, flat thorax 1 / 7739
38
 (OMIM) High, square shoulders 1 / 7739
39
 (OMIM) Prominent heel 5 / 7739
40
 (OMIM) Decreased male fertility 1 / 7739
41
 (MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, ...
Clinical Description OMIM Miller et al. (1975) observed a brother and sister, offspring of first-cousin parents, with low birth weight dwarfism, narrow facies, grooved lower anterior thorax, and clinodactyly. Intelligence was normal. Spranger et al. (1976) described 2 pairs of sibs ...
Molecular genetics OMIM Huber et al. (2005) found 25 distinct mutations in the cullin-7 gene (CUL7; 609577) in 29 families with 3M syndrome by direct sequencing. CUL7 assembles an E3 ubiquitin ligase complex containing SKP1 (601434), FBX29 (609073), and ROC1 (603814) ...