Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | |
| fr | Syndrome de microcéphalie progressive-épilepsie-cécité corticale-retard de développement | |
| de | Progressive Mikrozephalie-Krämpfe-Kortikale Blindheit-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de microcefalia progresiva-crisis-ceguera cortical-retraso del desarrollo | |
| it | Sindrome da microcefalia progressiva - crisi epilettiche - cecità corticale - ritardo dello sviluppo | |
| nl | Progressieve microcefalie - insulten - corticale blindheid - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de microcefalia progressiva-convulsões-cegueira cortical-perturbação do desenvolvimento | |
| pl | Zespół postępującego małogłowia, napadów padaczkowych, ślepoty korowej i opóźnienia w rozwoju | |
| cs | Syndrom zahrnující progresivní mikrocefalii, křeče, korovou slepotu a vývojové opoždění | |
| uk | Синдром прогресуючої мікроцефалії-судом-коркової сліпоти-затримки розвитку | |
| zh | 进行性小头畸形-癫痫-皮质盲-发育迟缓综合征 | |
| tr | İlerleyici mikrosefali-nöbetler-kortikal körlük-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616632 | E | validated | |
| ICD-10 | Q02 | NTBT | attributed | validated |
| MONDO | 0014714 | E | validated | |
| UMLS | C5567650 | 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 (5):
- ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DIAPH1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2876 | ENSG00000131504 | 602121 | 5q31.3 | diaphanous related formin 1 | 24781755[PMID]_2643574[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 24781755[PMID]_26463574[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24781755[PMID]_26463574[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
22 annotations · validated 2024-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100704 | Cerebral visual impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0004325 | Decreased body weight | |
| HP:0002719 | Recurrent infections | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0012191 | B-cell lymphoma | |
| HP:0012444 | Brain atrophy | |
| HP:0002110 | Bronchiectasis | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0000823 | Delayed puberty | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0034311 | Hypoplastic optic chiasm | |
| HP:0001252 | Hypotonia | |
| HP:0002665 | Lymphoma | |
| HP:0011330 | Metopic synostosis | |
| HP:0000648 | Optic atrophy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0033725 | Thin corpus callosum | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 36212620[PMID]_33662367[PMID]_26463574[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477814
- This record as JSON: /data/d/477814.json