Craniolenticulosutural dysplasia
Synonyms: Boyadjiev-Jabs syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by large and late-closing fontanels (the anterior fontanel may not completely ossify in adulthood) associated with facial dysmorphism and mild generalized skeletal dysplasia. Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniolenticulosutural dysplasia | Boyadjiev-Jabs syndrome |
| fr | Dysplasie cranio-lenticulo-suturale | Syndrome de Boyadjiev-Jabs |
| de | Dysplasie, kranio-lentikulo-suturale | Boyadjiev-Jabs-Syndrom |
| es | Displasia craneolenticulosutural | Síndrome de Boyadjiev-Jabs |
| it | Displasia cranio-lenticulo-suturale | Sindrome di Boyadjiev-Jabs |
| nl | Cranio-lenticulo-suturale dysplasie | Syndroom van Boyadjiev-Jabs |
| pt | Displasia cranio-lenticulo-sutural | Síndrome Boyadjiev-Jabs |
| pl | Dysplazja czaszkowo-soczewkowato-szwowa | Zespół Boyadjiev i Jabsa |
| cs | Kraniolentikulosuturální dysplázie | Boyadjievův-Jabsové syndrom · Boyadjiev-Jabsové syndrom |
| uk | Краніолентикулосуглобова дисплазія | Синдром Бояджієва-Джабса |
| zh | 颅豆状核发育不良 | Boyadjiev-Jabs综合症 |
| tr | Kraniolentikülosutural displazi | Boyadjiev-Jabs sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607812 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LB70.Y | NTBT | index | validated |
| MONDO | 0011911 | E | validated | |
| MeSH | C564332 | E | validated | |
| UMLS | C1843042 | 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 (4):
- 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEC23A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10701 | ENSG00000100934 | 610511 | 14q21.1 | SEC23 homolog A, COPII component | 16980979[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002299 | Brittle hair | |
| HP:0000670 | Carious teeth | |
| HP:0002208 | Coarse hair | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002007 | Frontal bossing | |
| HP:0008808 | High iliac wings | |
| HP:0000316 | Hypertelorism | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000239 | Large fontanelles | |
| HP:0000343 | Long philtrum | |
| HP:0000691 | Microdontia | |
| HP:0008031 | Posterior Y-sutural cataract | |
| HP:0008444 | Posterior wedging of vertebral bodies | |
| HP:0006480 | Premature loss of teeth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000319 | Smooth philtrum | |
| HP:0008070 | Sparse hair | |
| HP:0000233 | Thin vermilion border | |
| HP:0000154 | Wide mouth | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000774 | Narrow chest | |
| HP:0001763 | Pes planus | |
| Occasional (29-5%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0000218 | High palate | |
| HP:0001382 | Joint hypermobility | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12677423[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50814
- This record as JSON: /data/d/50814.json