Corpus callosum agenesis-abnormal genitalia syndrome
Synonyms: ACC-abnormal genitalia syndrome · Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome · Proud syndrome · Proud-Levine-Carpenter syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corpus callosum agenesis-abnormal genitalia syndrome | ACC-abnormal genitalia syndrome · Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome · Proud syndrome · Proud-Levine-Carpenter syndrome |
| fr | Syndrome d'agénésie du corps calleux-anomalies génitales | Syndrome d'ACC-anomalies génitales · Syndrome de Proud · Syndrome de Proud-Levine-Carpenter · Syndrome de microcéphalie-agénésie du corps calleux-anomalies génitales |
| de | Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom | ACC-Genitalfehlbildung-Syndrom · Mikrozephalie-Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom · Proud-Levine-Carpenter-Syndrom · Proud-Syndrom |
| es | Síndrome de agenesia del cuerpo calloso-anomalías genitales | Síndrome de ACC-anomalías genitales · Síndrome de Proud · Síndrome de Proud-Levine-Carpenter · Síndrome de microencefalia-agenesia del cuerpo calloso-anomalías genitales |
| it | Sindrome da agenesia del corpo calloso-anomalie dei genitali | Sindrome di Proud-Levine-Carpenter |
| nl | Agenesie van corpus callosum - abnormale genitaliën-syndroom | ACC - abnormale genitaliën-syndroom · Microcefalie - agenesie van corpus callosum - abnormale genitaliën-syndroom · Syndroom van Proud · Syndroom van Proud-Levine-Carpenter |
| pt | Síndrome de agenesia do corpo caloso-anomalias genitais | Síndrome Proud · Síndrome Proud-Levine-Carpenter · Síndrome de microcefalia-agenesia do corpo caloso-anomalias genitais |
| pl | Zespół agenezji ciała modzelowatego i nieprawidłowych narządów płciowych | Zespół Prouda · Zespół Prouda, Levine'a i Carpentera · Zespół małogłowia, agenezji ciała modzelowatego i nieprawidłowych narządów płciowych |
| cs | Syndrom zahrnující mikrocefalii, agenezi corpus callosum a abnormální genitál | Proudové-Levineův-Carpenterové syndrom · Proud-Levine-Carpenterové syndrom |
| uk | Синдром агенезії мозолистого тіла - аномалії геніталій | ACC-синдром аномальних геніталій · Мікроцефалія-агенезія мозолистого тіла-аномалія геніталій · Синдром Прауда · Синдром Прауда-Левіна-Карпентера |
| zh | 胼胝体发育不全-生殖器异常综合征 | 小头畸形-胼胝体发育不全-生殖器异常综合征 |
| tr | Korpus kallozum agenezi-anormal genitalya sendromu | Proud sendromu · ACC-anormal genitalya sendromu · Proud-Levine-Carpenter sendromu · Mikrosefali-korpus kallozum agenezi-anormal genitalya sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300004 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010224 | E | validated | |
| MeSH | C563110 | E | validated | |
| UMLS | C0796124 | E | validated | |
| GARD | 4528 | 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 (1):
- ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARX | Disease-causing germline mutation(s) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 14722918[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000280 | Coarse facial features | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000639 | Nystagmus | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000110 | Renal dysplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002445 | Tetraplegia | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2508
- This record as JSON: /data/d/2508.json