Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Synonyms: H1-4-related neurodevelopmental disorder · Rahman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation | H1-4-related neurodevelopmental disorder · Rahman syndrome |
| fr | Syndrome de déficience intellectuelle autosomique dominante-dysmorphie craniofaciale-macrocéphalie-hypotonie dû à une mutation du gène H1-4 | Syndrome de Rahman · Trouble neurologique du développement associé à H1-4 |
| de | Intelligenzminderung-kraniofaziale Dysmorphien-Makrozephalie-Hypotonie-Syndrom durch H1-4-Mutation | H1-4-assoziierte neurologische Entwicklungsstörung · HIST1H1E-Syndrom · Rahman-Syndrom |
| es | Síndrome de discapacidad intelectual-dismorfia craneofacial-macrocefalia-hipotonía autosómico dominante por mutación en el gen H1-4 | Síndrome de Rahman · Trastorno del neurodesarrollo asociado a H1-4 |
| it | Sindrome disabilità intellettiva-dismorfismi craniofacciali-macrocefalia-ipotonia da mutazione autosomica dominante di H1-4 | Malattia dello sviluppo neurologico correlata a H1-4 · Sindrome di Rahman |
| nl | Autosomaal dominante intellectuele achterstand - craniofaciale dysmorfie - macrocefalie - hypotonie-syndroom door H1-4-mutatie | H1-4-gerelateerde neurologische ontwikkelingsstoornis · Syndroom van Rahman |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia craniofacial-macrocefalia-hipotonia autossómica dominante por mutação H1-4 | Doença do neurodesenvolvimento H1-4-relacionada · Síndrome Rahman |
| pl | Autosomalny dominujący zespół niepełnosprawności intelektualnej - dysmorfii twarzoczaszki - makrocefalii - hipotonii spowodowany mutacją H1-4 | = en |
| cs | Autozomálně dominantní syndrom způsobený mutací H1-4 zahrnující mentální retardaci, kraniofaciální dysmorfii, makrocefalii a hypotonii | = en |
| uk | Аутосомно-домінантний синдром розумової відсталості-черепно-лицьового дисморфізму-макроцефалії-гіпотонії, зумовлений мутацією H1-4 | H1-4, повязані з порушенням нейророзвитку · Синдром Рахмана |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617537 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044323 | E | validated | |
| UMLS | C4479637 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H1-4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4718 | ENSG00000168298 | 142220 | 6p22.2 | H1.4 linker histone, cluster member | 31400068[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 28475857[PMID]_31400068[PMID]_35154720[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28475857[PMID]_31400068[PMID]_35154720[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642763
- This record as JSON: /data/d/642763.json