ORPHA:2053
Freeman-Sheldon syndrome
Synonyms: Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy · Distal arthrogryposis type 2A · Freeman-Burian syndrome · Whistling face syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Freeman-Sheldon syndrome | Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy · Distal arthrogryposis type 2A · Freeman-Burian syndrome · Whistling face syndrome |
| fr | Syndrome de Freeman-Sheldon | Arthrogrypose distale type 2A · Syndrome cranio-carpo-tarsien · Syndrome de Freeman-Burian · Syndrome de la face du siffleur |
| de | Freeman-Sheldon-Syndrom | Arthrogrypose, distale, Typ 2A · Freeman-Burian-Syndrom · Kraniokarpotarsale Dysplasie · Kraniokarpotarsale Dystrophie · Whistling-face-Syndrom |
| es | Síndrome de Freeman-Sheldon | Artrogriposis distal tipo 2A · Displasia cráneo-carpo-tarsal · Distrofia cráneo-carpo-tarsal · Síndrome de Freeman-Burian · Síndrome de cara de silbador |
| it | Sindrome di Freeman-Sheldon | Artrogriposi distale, tipo 2A · Displasia cranio-carpo-tarsale · Distrofia cranio-carpo-tarsale · Sindrome con faccia da fischiatore · Sindrome di Freeman-Burian |
| nl | Syndroom van Freeman-Sheldon | Craniocarpotarsale dysplasie · Craniocarpotarsale dystrofie · Distale artrogrypose type 2A · Syndroom van Freeman-Burian · Whistling face-syndroom |
| pt | Síndrome Freeman-Sheldon | Artrogripose distal tipo 2A · Distrofia crânio-carpo-társica · Síndrome Freeman-Burian · Síndrome de face em assobio |
| pl | Zespół Freemana i Sheldona | Dysplazja czaszkowo-nadgarstkowo-skokowa · Dystalna artrogrypoza typu 2A · Dystrofia czaszkowo-nadgarstkowo-skokowa · Zespół gwiżdżącej twarzy |
| cs | Freemanův-Sheldonův syndrom | Kraniokarpotarsální dysplázie · Kraniokarpotarsální dystrofie · Distální arthrogrypóza, typ 2A · Syndrom pískající tváře · Freeman-Sheldonův syndrom |
| uk | Синдром Фрімана-Шелдона | Краніокарпотарзальна дисплазія · Краніокарпотарзальна дистрофія · Дистальний артрогрипоз, тип 2А · Синдром Фрімана-Буріана · Синдром свистячого обличчя |
| zh | Freeman-Sheldon 综合征 | 远端关节弯曲2A型 |
| tr | Freeman-Sheldon sendromu | Islık çalan yüz sendromu · Kraniyokarpotarsal displazi · Kraniyokarpotarsal distrofi · Distal artrogripozis tip 2A |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193700 | BTNT | validated | |
| OMIM | 277720 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0008675 | E | validated | |
| MeSH | C535483 | E | validated | |
| UMLS | C0265224 | E | validated | |
| GARD | 6466 | E | validated | |
| MedDRA | 10073655 | 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 (4):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 16642020[PMID] |
| NALCN | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 25683120[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 19309503[PMID]_[EXPERT]_23277889[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.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0010751 | Chin dimple | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001387 | Joint stiffness | |
| HP:0000160 | Narrow mouth | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000365 | Hearing impairment | |
| HP:0001611 | Hypernasal speech | |
| HP:0000343 | Long philtrum | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0001557 | Prenatal movement abnormality | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0010489 | Absent palmar crease | |
| HP:0100790 | Hernia | |
| HP:0001562 | Oligohydramnios | |
| HP:0001561 | Polyhydramnios | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2053
- This record as JSON: /data/d/2053.json