Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Synonyms: Beare-Stevenson cutis gyrata syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | Beare-Stevenson cutis gyrata syndrome |
| fr | Syndrome de cutis gyrata-acanthosis nigricans-craniosynostose | Syndrome de Beare-Stevenson |
| de | Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom | Beare-Stevenson-Cutis gyrata-Syndrom |
| es | Síndrome de cutis gyrata-acantosis nigricans-craneosinostosis | Síndrome cutis gyrata de Beare-Stevenson |
| it | Cutis gyrata - acanthosis nigricans - craniosinostosi | Sindrome da cutis gyrata di Beare-Stevenson |
| nl | Cutis gyrata - acanthosis nigricans - craniosynostose-syndroom | Beare-Stevenson cutis gyrata-syndroom |
| pt | Síndrome de cutis gyrata-acantose nigricans-craniossinostose | Síndrome Beare-Stevenson |
| pl | Skóra kręta ciemienia - rogowacenie ciemne - kraniosynostoza | Zespół Beare'a i Stevensona i skóra kręta |
| cs | Syndrom zahrnující cutis gyrata, acanthosis nigricans a kraniosynostózu | Beareův-Stevensonův syndrom cutis gyrata · Beare-Stevensonův syndrom cutis gyrata |
| uk | Синдром складчастої пахідермії-чорного акантозу-краніосиностозу | Синдром Біра-Стівенсона (cutis gyrata) |
| zh | 回状颅皮-黑棘皮-颅缝早闭综合征 | Beare-Stevenson回状颅皮综合征 |
| tr | Cutis gyrata-akantozis nigrikans-kraniyosinostoz sendromu | Beare-Stevenson kutis girata sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123790 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007412 | E | validated | |
| MeSH | C565129 | E | validated | |
| UMLS | C1852406 | E | validated | |
| GARD | 332 | 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 (5):
- 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:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID]_21438135[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 19610084[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19610084[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
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000453 | Choanal atresia | |
| HP:0002676 | Cloverleaf skull | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000364 | Hearing abnormality | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000995 | Melanocytic nevus | |
| HP:0011800 | Midface retrusion | |
| HP:0007469 | Palmoplantar cutis gyrata | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0004450 | Preauricular skin furrow | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0009804 | Tooth agenesis | |
| HP:0000262 | Turricephaly | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0001363 | Craniosynostosis | |
| HP:0000189 | Narrow palate | |
| HP:0003246 | Prominent scrotal raphe | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000463 | Anteverted nares | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000822 | Hypertension | |
| HP:0000160 | Narrow mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0000391 | Thickened helices | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1555
- This record as JSON: /data/d/1555.json