CARPENTER SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: ACROCEPHALOPOLYSYNDACTYLY TYPE II
ACPS II
CARPENTER SYNDROME
CRPT1
Number of Symptoms 54
OrphanetNr:
OMIM Id: 201000
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:0000072) Hydroureter 146 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0000126) Hydronephrosis 119 / 7739
4
(HPO:0000286) Epicanthus 371 / 7739
5
(HPO:0004440) Coronal craniosynostosis 38 / 7739
6
(HPO:0006349) Agenesis of permanent teeth 13 / 7739
7
(HPO:0011800) Midface retrusion 221 / 7739
8
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
9
(HPO:0005280) Depressed nasal bridge 381 / 7739
10
(HPO:0000218) High palate 356 / 7739
11
(HPO:0001363) Craniosynostosis 132 / 7739
12
(HPO:0000248) Brachycephaly 222 / 7739
13
(HPO:0000648) Optic atrophy 238 / 7739
14
(HPO:0007957) Corneal opacity 84 / 7739
15
(HPO:0000482) Microcornea 102 / 7739
16
(HPO:0000369) Low-set ears 372 / 7739
17
(HPO:0000377) Abnormality of the pinna 111 / 7739
18
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
19
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
20
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
21
(HPO:0000405) Conductive hearing impairment 164 / 7739
22
(HPO:0004467) Preauricular pit 39 / 7739
23
(HPO:0000826) Precocious puberty 42 / 7739
24
(HPO:0001159) Syndactyly 140 / 7739
25
(HPO:0006397) Lateral displacement of patellae 2 / 7739
26
(HPO:0002673) Coxa valga 57 / 7739
27
(HPO:0002857) Genu valgum 144 / 7739
28
(HPO:0000960) Sacral dimple 29 / 7739
29
(HPO:0003298) Spina bifida occulta 67 / 7739
30
(HPO:0100259) Postaxial polydactyly 85 / 7739
31
(HPO:0002650) Scoliosis 705 / 7739
32
(HPO:0100258) Preaxial polydactyly 39 / 7739
33
(HPO:0012385) Camptodactyly 113 / 7739
34
(HPO:0001840) Metatarsus adductus 49 / 7739
35
(HPO:0001748) Polysplenia 14 / 7739
36
(HPO:0001539) Omphalocele 102 / 7739
37
(HPO:0001537) Umbilical hernia 206 / 7739
38
(HPO:0004322) Short stature 1232 / 7739
39
(HPO:0001513) Obesity 172 / 7739
40
(HPO:0001669) Transposition of the great arteries 36 / 7739
41
(HPO:0001631) Atria septal defect 274 / 7739
42
(HPO:0001643) Patent ductus arteriosus 228 / 7739
43
(HPO:0001642) Pulmonic stenosis 89 / 7739
44
(HPO:0001636) Tetralogy of Fallot 104 / 7739
45
(HPO:0001629) Ventricular septal defect 316 / 7739
46
(OMIM) Short muscular neck 1 / 7739
47
(OMIM) Delayed loss of deciduous teeth 1 / 7739
48
(OMIM) Decreased hip-joint mobility 1 / 7739
49
(OMIM) Absent coccyx 1 / 7739
50
(MedDRA:10058668) Clinodactyly 91 / 7739
51
(OMIM) Lateral displacement of medial canthi 1 / 7739
52
(MedDRA:10072883) Brachydactyly 153 / 7739
53
(OMIM) Variable delay (IQ range 52-104) 1 / 7739
54
(OMIM) Flared ilia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the ...
Clinical Description OMIM Carpenter (1909) described 2 sisters and a brother with acrocephaly, peculiar facies, brachydactyly, and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Temtamy (1966) could find 9 other reported cases and added one. In ...
Molecular genetics OMIM In 15 independent families with Carpenter syndrome, Jenkins et al. (2007) identified 5 different mutations (4 truncating and 1 missense) in the RAB23 gene (see, e.g., L145X, 606144.0001; 606144.0002), which encodes a member of the RAB guanosine triphosphatase ...