X-linked intellectual disability, Cilliers type
Synonyms: X-linked intellectual disability-microcephaly-testicular failure syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypergonadotropic hypogonadism associated with small and abnormal testes, microcephaly, small hands and nails, fifth finger clinodactyly, mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, high nasal bridge, large ears), and mild learning difficulties.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Cilliers type | X-linked intellectual disability-microcephaly-testicular failure syndrome |
| fr | Déficience intellectuelle liée à l'X type Cilliers | Syndrome de déficience intellectuelle liée à l'X-microcéphalie-insuffisance testiculaire |
| de | Intelligenzminderung, X-chromosomale, Typ Cilliers | Syndrom der X-chromosomalen Intelligenzminderung mit Mikrozephalie und Hodenversagen |
| es | Discapacidad intelectual ligada al cromosoma X tipo Cilliers | Síndrome de discapacidad intelectual-microcefalia-insuficiencia testicular ligado al cromosoma X |
| it | Disabilità intellettiva legata all'X, tipo Cilliers | Sindrome disabilità intellettiva-microcefalia-insufficienza testicolare legata all'X |
| nl | X-gebonden intellectuele achterstand, Cilliers-type | X-gebonden intellectuele achterstand - microcefalie - testiculair falen-syndroom |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Cilliers | Síndrome de perturbação do desenvolvimento intelectual ligada ao X-microcefalia-falência testicular |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Cilliersa | Niepełnosprawność intelektualna sprzężona z chromosomem X - małogłowie - niewydolność jąder |
| cs | X-vázaná mentální retardace, Cilliersové typ | Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii a testikulární selhání |
| uk | Х-зчеплена розумова відсталість, тип Cilliers | Х-зчеплена розумова відсталість-мікроцефалія-тестикулярна недостатність |
| zh | Cilliers 型X连锁智力障碍 | X连锁智力障碍-小头畸形-睾丸衰竭综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Cilliers tipi | X'e bağlı zihinsel yetersizlik-mikrosefali-testis yetmezliği 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 | 0015600 | E | validated | |
| UMLS | C4305024 | 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:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17369115[PMID] |
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17369115[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
25 annotations · validated 2016-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000400 | Macrotia | |
| HP:0000026 | Male hypogonadism | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001792 | Small nail | |
| Frequent (79-30%) | ||
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0000047 | Hypospadias | |
| HP:0011999 | Paranoia | |
| HP:0000709 | Psychosis | |
| HP:0100962 | Shyness | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17369115[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163971
- This record as JSON: /data/d/163971.json