Say-Barber-Miller syndrome
Synonyms: Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Say-Barber-Miller syndrome | Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome |
| fr | Syndrome de Say-Barber-Miller | Syndrome de microcéphalie-hypogammaglobulinémie-immunité anormale |
| de | Say-Barber-Miller-Syndrom | Mikrozephalie - Hypogammablobulinämie - Immundefekt |
| es | Síndrome de Say-Barber-Miller | Microcefalia-hipogammaglobulinemia-inmunodeficiencia |
| it | Sindrome di Say-Barber-Miller | Microcefalia - ipogammaglobulinemia - anomalie immunitarie |
| nl | Syndroom van Say-Barber-Miller | Microcefalie - hypogammaglobulinemie - abnormale immuniteit-syndroom |
| pt | Síndrome Say-Barber-Miller | Síndrome de microcefalia-hipogamaglobulinemia-imunodeficiência |
| pl | Zespół Saya, Barbera i Millera | Małogłowie - hipogammaglobulinemia - nieprawidłowa odporność |
| cs | Sayův-Barberové-Millerův syndrom | Syndrom zahrnující mikrocefalii, hypogamaglobulinémii a abnormální imunitu · Say-Barber-Millerův syndrom |
| uk | Синдром Сай-Барбера-Міллера | Синдром мікроцефалії-гіпогаммаглобулінемії- порушеного імунітету |
| zh | Say-Barber-Miller综合征 | 小头畸形-低丙球蛋白血症-免疫异常综合征 |
| tr | Say-Barber-Miller sendromu | Mikrosefali-hipogammaglobulinemi-anormal bağışıklık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251240 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | index | validated |
| MONDO | 0009620 | E | validated | |
| MeSH | C536618 | E | validated | |
| UMLS | C2931267 | E | validated | |
| GARD | 239 | 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:101977Immunodeficiency due to predominantly antibodies defect
rare genetic diseases; rare immunological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 4 cases | Worldwide | Case(s) | Validated | 3746838[PMID]_8728697[PMID]_19108857[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3746838[PMID]_8728697[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
57 annotations · validated 2019-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0000252 | Microcephaly | |
| HP:0005432 | Transient hypogammaglobulinemia of infancy | |
| Frequent (79-30%) | ||
| HP:0000444 | Convex nasal ridge | |
| HP:0001363 | Craniosynostosis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0012219 | Erythema nodosum | |
| HP:0000218 | High palate | |
| HP:0000135 | Hypogonadism | |
| HP:0040238 | Impaired neutrophil chemotaxis | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0012490 | Panniculitis | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0005001 | Recurrent patellar dislocation | |
| HP:0002650 | Scoliosis | |
| HP:0000340 | Sloping forehead | |
| Occasional (29-5%) | ||
| HP:0002843 | Abnormal T cell morphology | |
| HP:0009553 | Abnormality of the hairline | |
| HP:0011448 | Ankle clonus | |
| HP:0003487 | Babinski sign | |
| HP:0000455 | Broad nasal tip | |
| HP:0000670 | Carious teeth | |
| HP:0000028 | Cryptorchidism | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0000490 | Deeply set eye | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0011431 | Fetal fifth finger clinodactyly | |
| HP:0007034 | Generalized hyperreflexia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002827 | Hip dislocation | |
| HP:0001007 | Hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0007105 | Infantile encephalopathy | |
| HP:0031008 | Lingual dystonia | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000608 | Macular degeneration | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001583 | Rotary nystagmus | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001772 | Talipes equinovalgus | |
| HP:0000233 | Thin vermilion border | |
| HP:0005659 | Thoracic kyphoscoliosis | |
| HP:0000692 | Tooth malposition | |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19108857[PMID]_10189087[PMID]_10733244[PMID]_8728697[PMID]_3746838[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3132
- This record as JSON: /data/d/3132.json