3MC SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MICHELS SYNDROME, FORMERLY
CRANIOSYNOSTOSIS WITH LID ANOMALIES
OCULOPALATOSKELETAL SYNDROME
3MC1
Number of Symptoms 38
OrphanetNr:
OMIM Id: 257920
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:0000126) Hydronephrosis 119 / 7739
2
(HPO:0000175) Cleft palate 349 / 7739
3
(HPO:0001363) Craniosynostosis 132 / 7739
4
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
5
(HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
6
(HPO:0004440) Coronal craniosynostosis 38 / 7739
7
(HPO:0000316) Hypertelorism 644 / 7739
8
(HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
9
(HPO:0000581) Blepharophimosis 197 / 7739
10
(HPO:0002553) Highly arched eyebrow 92 / 7739
11
(HPO:0000204) Cleft upper lip 193 / 7739
12
(HPO:0000537) Epicanthus inversus 7 / 7739
13
(HPO:0000678) Dental crowding 65 / 7739
14
(HPO:0002678) Skull asymmetry 4 / 7739
15
(HPO:0000252) Microcephaly 832 / 7739
16
(HPO:0000260) Wide anterior fontanel 55 / 7739
17
(HPO:0000501) Glaucoma 180 / 7739
18
(HPO:0000496) Abnormality of eye movement 79 / 7739
19
(HPO:0000593) Abnormality of the anterior chamber 15 / 7739
20
(HPO:0000524) Conjunctival telangiectasia 17 / 7739
21
(HPO:0000508) Ptosis 459 / 7739
22
(HPO:0000405) Conductive hearing impairment 164 / 7739
23
(HPO:0001256) Intellectual disability, mild 141 / 7739
24
(HPO:0002558) Supernumerary nipple 40 / 7739
25
(HPO:0002974) Radioulnar synostosis 52 / 7739
26
(HPO:0009237) Short 5th finger 16 / 7739
27
(HPO:0006216) Single interphalangeal crease of fifth finger 3 / 7739
28
(HPO:0001773) Short foot 86 / 7739
29
(HPO:0003298) Spina bifida occulta 67 / 7739
30
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
31
(HPO:0001769) Broad foot 31 / 7739
32
(HPO:0000960) Sacral dimple 29 / 7739
33
(HPO:0001539) Omphalocele 102 / 7739
34
(HPO:0001510) Growth delay 295 / 7739
35
(HPO:0008897) Postnatal growth retardation 113 / 7739
36
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
(OMIM) Broad, short feet 8 / 7739
38
(OMIM) Periumbilical depression 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly ...
Clinical Description OMIM Michels et al. (1978) described 3 brothers and a sister with the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus, plus a developmental defect of the anterior segment of the eye leading to corneal stromal opacities, limitation of ...
Molecular genetics OMIM In 2 Turkish families with 3MC syndrome mapping to chromosome 3q27, Sirmaci et al. (2010) performed whole genome sequencing of candidate genes and identified homozygosity for a missense and a nonsense mutation in the MASP1 gene (600521.0004-600521.0005, respectively). ...