Carpenter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ACPS 2
Acrocephalopolysyndactyly type 2
Number of Symptoms 67
OrphanetNr: 65759
OMIM Id: 201000
614976
ICD-10: Q87.0
UMLs: C1275078
MeSH:
MedDRA:
Snomed: 205813009
403767009

Prevalence, inheritance and age of onset:

Prevalence: > 70 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0003241) External genital hypoplasia 25 / 7739
3
 (HPO:0000072) Hydroureter 146 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0000248) Brachycephaly 222 / 7739
6
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
7
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
8
 (HPO:0000506) Telecanthus 156 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0002700) Large foramen magnum 6 / 7739
11
 (HPO:0011800) Midface retrusion 221 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0006335) Persistence of primary teeth 12 / 7739
14
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0000286) Epicanthus 371 / 7739
17
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
18
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
19
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
20
 (HPO:0000272) Malar flattening 277 / 7739
21
 (HPO:0005280) Depressed nasal bridge 381 / 7739
22
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
23
 (HPO:0000482) Microcornea 102 / 7739
24
 (HPO:0000648) Optic atrophy 238 / 7739
25
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0000377) Abnormality of the pinna 111 / 7739
28
 (HPO:0000405) Conductive hearing impairment 164 / 7739
29
 (HPO:0004467) Preauricular pit 39 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0000826) Precocious puberty 42 / 7739
32
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
33
 (HPO:0010194) Aplasia/Hypoplasia of the middle phalanges of the toes 4 / 7739
34
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
35
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
36
 (HPO:0012385) Camptodactyly 113 / 7739
37
 (HPO:0010093) Duplication of the proximal phalanx of the hallux 1 / 7739
38
 (HPO:0002970) Genu varum 60 / 7739
39
 (HPO:0003298) Spina bifida occulta 67 / 7739
40
 (HPO:0001840) Metatarsus adductus 49 / 7739
41
 (HPO:0009608) Complete duplication of proximal phalanx of the thumb 1 / 7739
42
 (HPO:0010275) Pseudoepiphyses of the proximal phalanges of the hand 1 / 7739
43
 (HPO:0002650) Scoliosis 705 / 7739
44
 (HPO:0001770) Toe syndactyly 149 / 7739
45
 (HPO:0002673) Coxa valga 57 / 7739
46
 (HPO:0002857) Genu valgum 144 / 7739
47
 (HPO:0009473) Joint contracture of the hand 84 / 7739
48
 (HPO:0002869) Flared iliac wings 20 / 7739
49
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
50
 (HPO:0006397) Lateral displacement of patellae 2 / 7739
51
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
52
 (HPO:0000960) Sacral dimple 29 / 7739
53
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
54
 (HPO:0001748) Polysplenia 14 / 7739
55
 (HPO:0001539) Omphalocele 102 / 7739
56
 (HPO:0001537) Umbilical hernia 206 / 7739
57
 (HPO:0004322) Short stature 1232 / 7739
58
 (HPO:0001513) Obesity 172 / 7739
59
 (HPO:0001629) Ventricular septal defect 316 / 7739
60
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
61
 (HPO:0001631) Atria septal defect 274 / 7739
62
 (HPO:0001669) Transposition of the great arteries 36 / 7739
63
 (HPO:0001642) Pulmonic stenosis 89 / 7739
64
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
65
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
67
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: