CARPENTER SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: CRPT2
Number of Symptoms 72
OrphanetNr:
OMIM Id: 614976
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:0000316) Hypertelorism 644 / 7739
2
(HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 44 / 7739
3
(HPO:0001513) Obesity 172 / 7739
4
(HPO:0001651) Dextrocardia 38 / 7739
5
(HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
6
(HPO:0005180) Tricuspid regurgitation 20 / 7739
7
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
8
(HPO:0001643) Patent ductus arteriosus 228 / 7739
9
(HPO:0001669) Transposition of the great arteries rare [HPO:skoehler] 36 / 7739
10
(HPO:0010239) Aplasia of the middle phalanx of the hand 3 / 7739
11
(HPO:0011304) Broad thumb 39 / 7739
12
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
13
(HPO:0009602) Abnormality of thumb phalanx 1 / 7739
14
(HPO:0100259) Postaxial polydactyly rare [HPO:skoehler] 85 / 7739
15
(HPO:0100258) Preaxial polydactyly 39 / 7739
16
(HPO:0001156) Brachydactyly syndrome 180 / 7739
17
(HPO:0010554) Cutaneous finger syndactyly 39 / 7739
18
(HPO:0001762) Talipes equinovarus 309 / 7739
19
(HPO:0002812) Coxa vara rare [HPO:skoehler] 58 / 7739
20
(HPO:0000929) Abnormality of the skull 53 / 7739
21
(HPO:0000278) Retrognathia rare [HPO:skoehler] 100 / 7739
22
(HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
23
(HPO:0000243) Trigonocephaly rare [HPO:skoehler] 40 / 7739
24
(HPO:0001363) Craniosynostosis 132 / 7739
25
(HPO:0004440) Coronal craniosynostosis 38 / 7739
26
(HPO:0002007) Frontal bossing rare [HPO:skoehler] 366 / 7739
27
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
28
(HPO:0000262) Turricephaly 38 / 7739
29
(HPO:0000263) Oxycephaly rare [HPO:skoehler] 10 / 7739
30
(HPO:0000768) Pectus carinatum 136 / 7739
31
(HPO:0000767) Pectus excavatum 244 / 7739
32
(HPO:0002557) Hypoplastic nipples 33 / 7739
33
(HPO:0002558) Supernumerary nipple 40 / 7739
34
(HPO:0000470) Short neck 345 / 7739
35
(HPO:0002553) Highly arched eyebrow 92 / 7739
36
(HPO:0000535) Sparse and thin eyebrow rare [HPO:skoehler] 76 / 7739
37
(HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
38
(HPO:0001539) Omphalocele 102 / 7739
39
(HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
40
(HPO:0000049) Shawl scrotum rare [HPO:skoehler] 31 / 7739
41
(HPO:0000028) Cryptorchidism 347 / 7739
42
(HPO:0011800) Midface retrusion 221 / 7739
43
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
44
(HPO:0000218) High palate 356 / 7739
45
(HPO:0000189) Narrow palate 45 / 7739
46
(HPO:0000463) Anteverted nares 305 / 7739
47
(HPO:0005280) Depressed nasal bridge 381 / 7739
48
(HPO:0000431) Wide nasal bridge 290 / 7739
49
(HPO:0000286) Epicanthus 371 / 7739
50
(HPO:0000465) Webbed neck rare [HPO:skoehler] 81 / 7739
51
(HPO:0006610) Wide intermamillary distance 46 / 7739
52
(HPO:0000369) Low-set ears 372 / 7739
53
(HPO:0009904) Prominent ear helix 8 / 7739
54
(HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
55
(HPO:0000973) Cutis laxa 43 / 7739
56
(HPO:0012385) Camptodactyly 113 / 7739
57
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
(MedDRA:10072883) Brachydactyly 153 / 7739
59
(OMIM) Central position of liver 1 / 7739
60
(OMIM) Clinodactyly, 5th finger (rare) 1 / 7739
61
(OMIM) Developmental delay, variable severity 1 / 7739
62
(OMIM) Elevated right hemidiaphragm 1 / 7739
63
(OMIM) Eventration of diaphragm 4 / 7739
64
(OMIM) Increased birth weight 6 / 7739
65
(OMIM) Increased posterior angulation 1 / 7739
66
(OMIM) Left-sided liver (rare) 1 / 7739
67
(OMIM) Multiple dental caries 1 / 7739
68
(OMIM) Narrow nares (rare) 1 / 7739
69
(OMIM) Nasolacrimal duct obstruction due to ectropion of lower eyelids (rare) 1 / 7739
70
(OMIM) Preaxial polydactyly, partial (rare) 1 / 7739
71
(OMIM) Right-sided spleen (rare) 1 / 7739
72
(OMIM) Sensorineural hearing loss, mild (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Altunhan et al. (2011) described a Turkish boy who was born with acrocephaly and a peculiar facies characterized by frontal bossing. Digital abnormalities included clinodactyly of the fifth fingers, membranous syndactyly of fingers 3 and 4, syndactyly of ...
Molecular genetics OMIM In a consanguineous Turkish family in which the proband was a 9-year-old boy with the cardinal features of Carpenter syndrome and dextrocardia, who was negative for mutation in the RAB3 (602536) and GLI3 (165240) genes, Twigg et al. ...