Cardiocranial syndrome, Pfeiffer type
Synonyms: Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiocranial syndrome, Pfeiffer type | Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome |
| fr | Syndrome cardio-crânien type Pfeiffer | Syndrome de Pfeiffer-Singer-Zschiesche · Syndrome de craniosténose sagittale-cardiopathie congénitale-déficience intellectuelle-ankylose mandibulaire · Syndrome de craniosynostose-cardiopathie-déficience intellectuelle |
| de | Kardiokraniales Syndrom Typ Pfeiffer | Kraniosynostose mit kongenitaler Herzerkrankung und Intelligenzminderung · Pfeiffer-Singer-Zschiesche-Syndrom |
| es | Síndrome cardiocraneal tipo Pfeiffer | Síndrome de Pfeiffer-Singer-Zschiesche · Síndrome de craneosinostosis-cardiopatía congénita-discapacidad intelectual |
| it | Sindrome cardio-cranica tipo Pfeiffer | Sindrome Pfeiffer-Singer-Zschiesche · Sindrome craniosinostosi-cardiopatia congenita-disabilità intellettiva |
| nl | Cardiocraniaal syndroom, Pfeiffer-type | Craniosynostose - congenitale hartziekte - intellectuele achterstand-syndroom · Syndroom van Pfeiffer-Singer-Zschiesche |
| pt | Síndrome cardio-craniano, tipo Pfeiffer | Síndrome Pfeiffer-Singer-Zschiesche · Síndrome de craniosinostose-cardiopatia congénita-perturbação do desenvolvimento intelectual |
| pl | Zespół sercowo-czaszkowy typu Pfeiffera | Kraniostenoza strzrałkowa z wrodzoną wadą serca, upośledzenie umysłowe i ankyloza żuchwy · Kraniosynostoza - wrodzona choroba serca - niepełnosprawność intelektualna · Zespół Pfeiffera, Singera i Zschieschego |
| cs | Kardiokraniální syndrom, Pfeifferův typ | Syndrom zahrnující kraniosynostózu, vrozenou srdeční vadu a mentální retardaci · Pfeifferův-Singerův-Zschiescheův syndrom · Pfeiffer-Singer-Zschiescheův syndrom |
| uk | Кардіокраніальний синдром, тип Пфайфера | Синдром краніосиностозу - вроджених вад серця - інтелектуальної недостатності · Синдром Пфайфера-Зінгера-Щише |
| zh | 心颅综合征，Pfeiffer型 | 矢状面颅骨狭窄伴先天性心脏病、精神发育迟滞和下颌关节强直 |
| tr | Kardiyokraniyal sendrom, Pfeiffer tipi | Pfeiffer-Singer-Zschiesche sendromu · Kraniyosinostozis-doğumsal kalp hastalığı-zihinsel yetersizlik sendromu · Doğumsal kalp hastalığı, zihinsel yetersizlik ve mandibular ankiloz ile seyreden sagital kraniyostenoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218450 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009036 | E | validated | |
| MeSH | C535578 | E | validated | |
| UMLS | C1857495 | E | validated | |
| GARD | 8586 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 16531733[PMID]_9415478[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16531733[PMID]_9415478[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0012478 | Temporomandibular joint ankylosis | |
| Frequent (79-30%) | ||
| HP:0010721 | Abnormal hair whorl | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0002778 | Abnormal trachea morphology | |
| HP:0000193 | Bifid uvula | |
| HP:0000289 | Broad philtrum | |
| HP:0009540 | Contracture of the proximal interphalangeal joint of the 2nd finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0010621 | Cutaneous syndactyly of toes | |
| HP:0006191 | Deep palmar crease | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002876 | Episodic tachypnea | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000054 | Micropenis | |
| HP:0008112 | Plantar flexion contractures | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0004322 | Short stature | |
| HP:0001238 | Slender finger | |
| HP:0010487 | Small hypothenar eminence | |
| HP:0008070 | Sparse hair | |
| HP:0000473 | Torticollis | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 2624274[PMID]_3582410[PMID]_8592338[PMID]_9415478[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2872
- This record as JSON: /data/d/2872.json