MCID: CRP022
MIFTS: 26

Carpenter Syndrome 2

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Endocrine diseases

Aliases & Classifications for Carpenter Syndrome 2

Summaries for Carpenter Syndrome 2

OMIM : 53 Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000. (614976)

MalaCards based summary : Carpenter Syndrome 2, also known as crpt2, is related to cole-carpenter syndrome 2, and has symptoms including hypertelorism, low-set ears and short neck. An important gene associated with Carpenter Syndrome 2 is MEGF8 (Multiple EGF Like Domains 8). Affiliated tissues include heart, liver and skin.

UniProtKB/Swiss-Prot : 71 Carpenter syndrome 2: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.

Related Diseases for Carpenter Syndrome 2

Diseases in the Say Carpenter Syndrome family:

Carpenter Syndrome 1 Carpenter Syndrome 2

Diseases related to Carpenter Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 2 12.3

Symptoms & Phenotypes for Carpenter Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
epicanthal folds
high-arched eyebrows
upslanting palpebral fissures
nasolacrimal duct obstruction due to ectropion of lower eyelids (rare)
more
Head And Neck Neck:
short neck
webbed neck (rare)

Growth Weight:
obesity
increased birth weight

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
anteverted nares
narrow nares (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
brachydactyly
talipes equinovarus
preaxial polydactyly
absent middle phalanges
syndactyly, cutaneous

Cardiovascular Heart:
dextrocardia
atrial septal defect (rare)
tricuspid valve insufficiency (rare)

Skin Nails Hair Hair:
sparse eyebrows

Genitourinary External Genitalia Male:
small penis (rare)
shawl scrotum (rare)

Chest Diaphragm:
eventration of diaphragm
elevated right hemidiaphragm

Head And Neck Teeth:
multiple dental caries

Abdomen Liver:
left-sided liver (rare)
central position of liver

Skeletal Skull:
craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures)

Neurologic Central Nervous System:
developmental delay, variable severity

Head And Neck Ears:
low-set ears
increased posterior angulation
protruding ears (rare)
hearing loss, sensorineural, mild (rare)

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Head And Neck Mouth:
narrow palate
high-arched palate

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels (rare)

Skeletal Hands:
brachydactyly
camptodactyly
broad thumbs
absent middle phalanges
syndactyly, cutaneous
more
Head And Neck Face:
midface retrusion
retrognathia (rare)
frontal bossing (rare)

Chest Breasts:
hypoplastic nipples
accessory nipples
widely spaced nipples

Abdomen External Features:
umbilical hernia (rare)

Skin Nails Hair Skin:
loose skin

Head And Neck Head:
acrocephaly (rare)
trigonocephaly (rare)
brachycephaly (rare)

Abdomen:
situs inversus totalis (rare)

Abdomen Spleen:
right-sided spleen (rare)

Skeletal Pelvis:
coxa vara (rare)


Clinical features from OMIM:

614976

Human phenotypes related to Carpenter Syndrome 2:

31 (show all 48)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 pectus excavatum 31 HP:0000767
5 obesity 31 HP:0001513
6 frontal bossing 31 occasional (7.5%) HP:0002007
7 high palate 31 HP:0000218
8 narrow palate 31 HP:0000189
9 global developmental delay 31 HP:0001263
10 depressed nasal bridge 31 HP:0005280
11 wide nasal bridge 31 HP:0000431
12 pectus carinatum 31 HP:0000768
13 umbilical hernia 31 occasional (7.5%) HP:0001537
14 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
15 anteverted nares 31 HP:0000463
16 broad thumb 31 HP:0011304
17 brachycephaly 31 occasional (7.5%) HP:0000248
18 retrognathia 31 occasional (7.5%) HP:0000278
19 patent ductus arteriosus 31 HP:0001643
20 epicanthus 31 HP:0000286
21 cryptorchidism 31 HP:0000028
22 wide intermamillary distance 31 HP:0006610
23 webbed neck 31 occasional (7.5%) HP:0000465
24 atrial septal defect 31 occasional (7.5%) HP:0001631
25 protruding ear 31 occasional (7.5%) HP:0000411
26 upslanted palpebral fissure 31 HP:0000582
27 brachydactyly 31 HP:0001156
28 talipes equinovarus 31 HP:0001762
29 midface retrusion 31 HP:0011800
30 highly arched eyebrow 31 HP:0002553
31 craniosynostosis 31 HP:0001363
32 cutaneous finger syndactyly 31 HP:0010554
33 coxa vara 31 occasional (7.5%) HP:0002812
34 situs inversus totalis 31 occasional (7.5%) HP:0001696
35 hypoplastic nipples 31 HP:0002557
36 transposition of the great arteries 31 occasional (7.5%) HP:0001669
37 trigonocephaly 31 occasional (7.5%) HP:0000243
38 micropenis 31 occasional (7.5%) HP:0000054
39 supernumerary nipple 31 HP:0002558
40 shawl scrotum 31 occasional (7.5%) HP:0000049
41 camptodactyly 31 HP:0012385
42 narrow naris 31 occasional (7.5%) HP:0009933
43 cutis laxa 31 HP:0000973
44 aplasia of the middle phalanx of the hand 31 HP:0010239
45 oxycephaly 31 occasional (7.5%) HP:0000263
46 postaxial polydactyly 31 occasional (7.5%) HP:0100259
47 preaxial polydactyly 31 HP:0100258
48 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535

Drugs & Therapeutics for Carpenter Syndrome 2

Search Clinical Trials , NIH Clinical Center for Carpenter Syndrome 2

Genetic Tests for Carpenter Syndrome 2

Genetic tests related to Carpenter Syndrome 2:

# Genetic test Affiliating Genes
1 Carpenter Syndrome 2 28 MEGF8

Anatomical Context for Carpenter Syndrome 2

MalaCards organs/tissues related to Carpenter Syndrome 2:

38
Heart, Liver, Skin, Spleen

Publications for Carpenter Syndrome 2

Variations for Carpenter Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome 2:

71
# Symbol AA change Variation ID SNP ID
1 MEGF8 p.Gly199Arg VAR_069305
2 MEGF8 p.Arg1566His VAR_069306 rs397515427
3 MEGF8 p.Ser2434Gly VAR_069307 rs397515428

ClinVar genetic disease variations for Carpenter Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MEGF8 NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs397514621 GRCh37 Chromosome 19, 42841056: 42841056
2 MEGF8 NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly) single nucleotide variant Pathogenic rs397515428 GRCh37 Chromosome 19, 42879689: 42879689
3 MEGF8 NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His) single nucleotide variant Pathogenic rs397515427 GRCh37 Chromosome 19, 42861000: 42861000
4 MEGF8 MEGF8, GLY199ARG single nucleotide variant Pathogenic

Expression for Carpenter Syndrome 2

Search GEO for disease gene expression data for Carpenter Syndrome 2.

Pathways for Carpenter Syndrome 2

GO Terms for Carpenter Syndrome 2

Sources for Carpenter Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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