X-linked intellectual disability, Cabezas type
Synonyms: Cabezas syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Cabezas type | Cabezas syndrome |
| fr | Déficience intellectuelle liée à l'X type Cabezas | Syndrome de Cabezas |
| de | Intelligenzminderung, X-chromosomale, Typ Cabezas | Cabezas-Syndrom |
| es | Discapacidad intelectual ligada al cromosoma X tipo Cabezas | Síndrome de Cabezas |
| it | Disabilità intellettiva legata all'X tipo Cabezas | Sindrome di Cabezas |
| nl | X-gebonden intellectuele achterstand, Cabezas-type | Syndroom van Cabezas |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Cabezas | Síndrome Cabezas |
| pl | Zespół Cabezasa | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Cabezasa |
| cs | X-vázaná mentální retardace, Cabezasův typ | Cabezasův syndrom |
| uk | Х-зчеплена розумова відсталість, тип Кабезас | Синдром Кабесаса |
| zh | X连锁智力障碍，Cabezas型 | Cabezas综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Cabezas tipi | Cabezas sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300354 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010306 | E | validated | |
| UMLS | C1845861 | E | validated | |
| GARD | 13244 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:85289X-linked intellectual disability, Vitale type moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CUL4B | Disease-causing germline mutation(s) in | Assessed | HGNC:2555 | ENSG00000158290 | 300304 | Xq24 | cullin 4B | 17236139[PMID]_2000245[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 families | Worldwide | Family(ies) | Validated | 25385192[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25385192[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
49 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001344 | Absent speech | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000752 | Hyperactivity | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000023 | Inguinal hernia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0010807 | Open bite | |
| HP:0000448 | Prominent nose | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
| HP:0000322 | Short philtrum | |
| HP:0200055 | Small hand | |
| HP:0000664 | Synophrys | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000581 | Blepharophimosis | |
| HP:0002136 | Broad-based gait | |
| HP:0004326 | Cachexia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000218 | High palate | |
| HP:0000256 | Macrocephaly | |
| HP:0001513 | Obesity | |
| HP:0001761 | Pes cavus | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0004422 | Biparietal narrowing | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002967 | Cubitus valgus | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000135 | Hypogonadism | |
| HP:0002721 | Immunodeficiency | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 10978355[PMID]_20002452[PMID]_25251057[PMID]_8826447[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85293
- This record as JSON: /data/d/85293.json