X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive | |
| de | X-chromosomale Intelligenzminderung mit Hypogammaglobulinämie und progressiven neurologischen Ausfällen | |
| es | Síndrome de discapacidad intelectual-hipogammaglobulinemia-deterioro neurológico progresivo ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X-ipogammaglobulinemia-deterioramento neurologico progressivo | |
| nl | X-gebonden intellectuele achterstand - hypogammaglobulinemie - progressieve neurologische achteruitgang-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipogamaglobulinemia-deterioração neurológica progressiva ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - hipogammaglobulinemia - postępujące pogorszenie stanu neurologicznego | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, hypogamaglobulinémii a progresivní neurologickou deterioraci | |
| uk | Синдром Х-зчепленої розумової відсталості-гіпогаммаглобулінемії-прогресуючого неврологічного порушення | |
| zh | X连锁智力障碍-低丙种球蛋白血症-进展性神经功能恶化综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-hipogamaglobulinemi-ilerleyici nörolojik bozulma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019416 | E | validated | |
| UMLS | C4304919 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic 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 | 3 cases | Worldwide | Case(s) | Validated | 10398239[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10398239[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000998 | Hypertrichosis | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0001250 | Seizure | |
| HP:0000664 | Synophrys | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0001288 | Gait disturbance | |
| HP:0000316 | Hypertelorism | |
| HP:0002808 | Kyphosis | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10398239[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85317
- This record as JSON: /data/d/85317.json