ORPHA:65759
Carpenter syndrome
Synonyms: ACPS2 · Acrocephalopolysyndactyly type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Neonatal
- Status
- active
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carpenter syndrome | ACPS2 · Acrocephalopolysyndactyly type 2 |
| fr | Syndrome de Carpenter | ACPS2 · Acro-céphalo-syndactylie type 2 |
| de | Carpenter-Syndrom | ACPS2 · Akrozephalopolysyndaktylie Typ 2 |
| es | Síndrome de Carpenter | ACPS 2 · Acrocefalopolisindactilia tipo 2 |
| it | Sindrome di Carpenter | ACPS2 · Acrocefalopolisindattilia, tipo 2 |
| nl | Syndroom van Carpenter | ACPS 2 · Acrocefalopolysyndactylie type 2 |
| pt | Síndrome Carpenter | ACPS2 · Acrocefalopolissindactilia tipo 2 |
| pl | Zespół Carpentera | ACPS2 · Akrocefalopolisyndaktylia typu 2 |
| cs | Carpenterův syndrom | ACPS2 · Akrocefalopolysyndaktylie, typ 2 |
| uk | Синдром Карпентера | ACPS2 · Акроцефалополісиндактилія 2 типу |
| zh | Carpenter综合征 | 尖头多指（趾）并指（趾）畸形2型 |
| tr | Carpenter sendromu | ACPS2 · Akrosefalopolisindaktili tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201000 | BTNT | validated | |
| OMIM | 614976 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | index | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0019012 | E | validated | |
| MeSH | C563187 | E | validated | |
| UMLS | C1275078 | E | validated | |
| GARD | 6003 | E | validated | |
| MedDRA | 10081310 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3210Summitt syndrome moved to · inactive
- ORPHA:65798Goodman syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAB23 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14263 | ENSG00000112210 | 606144 | 6p12.1-p11.2 | RAB23, member RAS oncogene family | 17503333[PMID]_21412941[PMID] |
| MEGF8 | Disease-causing germline mutation(s) in | Assessed | HGNC:3233 | ENSG00000105429 | 604267 | 19q13.2 | multiple EGF like domains 8 | 23063620[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 23063620[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2024-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0006101 | Finger syndactyly | |
| HP:0001770 | Toe syndactyly | |
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000275 | Narrow face | |
| HP:0001513 | Obesity | |
| HP:0000263 | Oxycephaly | |
| HP:0001357 | Plagiocephaly | |
| HP:0010442 | Polydactyly | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0004279 | Short palm | |
| HP:0001159 | Syndactyly | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000481 | Abnormal cornea morphology | |
| HP:0012243 | Abnormal reproductive system morphology | |
| HP:0011304 | Broad thumb | |
| HP:0002676 | Cloverleaf skull | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002857 | Genu valgum | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0000486 | Strabismus | |
| HP:0000262 | Turricephaly | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001748 | Polysplenia | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15129947[PMID]_20358613[PMID]_474616[PMID]_3322002[PMID]_2309763[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65759
- This record as JSON: /data/d/65759.json