ORPHA:2332
KBG syndrome
Synonyms: ANKRD11-related disorder · Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KBG syndrome | ANKRD11-related disorder · Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome |
| fr | Syndrome KBG | Maladie associée à ANKRD11 · Syndrome de K.B.G. · Syndrome de petite taille-anomalies faciales et squelettiques-déficience intellectuelle-macrodontie |
| de | KBG-Syndrom | ANKRD11-assoziierte Störung · Kleinwuchs-faziale und skelettale Anomalien-Intelligenzminderung-Makrodontie-Syndrom |
| es | Síndrome KBG | Síndrome de talla baja-anomalías faciales y esqueléticas-discapacidad intelectual-macrodoncia · Trastorno asociado a ANKRD11 |
| it | Sindrome KBG | Malattia correlata ad ANKRD11 · Sindrome bassa statura-anomalie facciali e scheletriche-disabilità intellettiva-macrodontia · Sindrome bassa statura-anomalie facciali e scheletriche-deficit cognitivo-macrodontia · Bassa statura - anomalie facciali e scheletriche - deficit cognitivo - macrodontia |
| nl | KBG-syndroom | ANKRD11-gerelateerde aandoening · Kleine gestalte - faciale en skeletale anomalieën - intellectuele achterstand - macrodontie-syndroom |
| pt | Síndrome KBG | Síndrome de baixa estatura-anomalias faciais e esqueléticas-pertubação do desenvolvimento intelectual-macrodontia |
| pl | Zespół KBG | Niski wzrost - wady twarzy i szkieletu - niepełnosprawność intelektualna - makrodoncja |
| cs | KBG syndrom | Syndrom zahrnující nízký vzrůst, obličejové a kosterní anomálie, mentální retardaci a makrodoncii |
| uk | Синдром KBG | Синдром низькорослості - лицьових та скелетних аномалій - розумовоїа відсталості - макродонтії |
| zh | KBG综合征 | 身材矮小-面骨异常-智力障碍-巨牙综合征 |
| tr | KBG sendromu | Kısa boy-fasiyal ve iskelet anomalileri-zihinsel yetersizlik-makrodonti sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148050 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007846 | E | validated | |
| MeSH | C537015 | E | validated | |
| UMLS | C0220687 | E | validated | |
| GARD | 82 | E | validated | |
| MedDRA | 10084411 | 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 (6):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANKRD11 | Disease-causing germline mutation(s) in | Assessed | HGNC:21316 | ENSG00000167522 | 611192 | 16q24.3 | ankyrin repeat domain 11 | 21782149[PMID]_23184435[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 164 cases | Worldwide | Case(s) | Validated | 21782149[PMID]_29565525[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 2019-01-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | Diagnostic criterion |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0000891 | Cervical ribs | Diagnostic criterion |
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0000028 | Cryptorchidism | Diagnostic criterion |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0002750 | Delayed skeletal maturation | Diagnostic criterion |
| HP:0011968 | Feeding difficulties | Diagnostic criterion |
| HP:0040019 | Finger clinodactyly | |
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| HP:0000316 | Hypertelorism | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0001572 | Macrodontia | Diagnostic criterion |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000677 | Oligodontia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002650 | Scoliosis | Diagnostic criterion |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000506 | Telecanthus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0000325 | Triangular face | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002948 | Vertebral fusion | |
| HP:0000465 | Webbed neck | |
| HP:0001566 | Widely-spaced maxillary central incisors | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0045017 | Congenital malformation of the left heart | |
| HP:0002353 | EEG abnormality | Diagnostic criterion |
| HP:0004474 | Persistent open anterior fontanelle | Diagnostic criterion |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
Annotation source: 29258554[PMID]_6467660[PMID]_17230487[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2332
- This record as JSON: /data/d/2332.json