ORPHA:459070
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Synonyms: RPL10-related neurodevelopmental disorder · RPL10-related X-linked intellectual disability
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | RPL10-related neurodevelopmental disorder · RPL10-related X-linked intellectual disability |
| fr | Syndrome de déficience intellectuelle hypoplasie cérébelleuse-dysplasie spondyloépiphysaire | Trouble du neurodéveloppement associé à RPL10 · Syndrome de déficience intellectuelle liée à l'X associé à RPL10 |
| de | X-chromosomale Intelligenzminderung-zerebelläre Hypoplasie-spondyloepiphysäre Dysplasie-Syndrom | RPL10-assoziierte neurologische Entwicklungsstörung · X-chromosomale Intelligenzminderung, RPL10-assoziierte |
| es | Síndrome de discapacidad intelectual-hipoplasia cerebelosa-displasia espondiloepifisaria ligado al cromosoma X | Trastorno del neurodesarrollo asociado al gen RPL10 · Discapacidad intelectual ligada al cromosoma X asociada al gen RPL10 |
| it | Sindrome disabilità intellettiva-ipoplasia cerebellare-displasia spondiloepifisaria legata all'X | Disabilità intellettiva legata all'X correlata a RPL10 · Malattia del neurosviluppo correlata a RPL10 |
| nl | X-gebonden intellectuele achterstand - cerebellaire hypoplasie - spondylo-epifysaire dysplasie-syndroom | RPL10-gerelateerde neurologische ontwikkelingsstoornis · RPL10-gerelateerde X-gebonden intellectuele achterstand |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipoplasia cerebelosa-displasia espondilo-epifisária ligada ao X | |
| pl | Zespół niepełnosprawności intelektualnej sprzężonej z chromosomem X, hipoplazji móżdżku i dysplazji kręgowo-nasadowej | = en |
| cs | X-vázaná mentální retardace, cerebelární hypoplázie a spondyloepifyzární dysplázie | = en |
| uk | Х-зчеплений синдром розумової відсталості-гіпоплазії мозочка-спондило-епіфізарної дисплазії | |
| zh | X连锁-智力障碍-小脑发育不全-脊椎骨骺发育不良综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-serebellar hipoplazi-spondilo-epifizal displazi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300998 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0018724 | E | validated | |
| UMLS | C5687848 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPL10 | Disease-causing germline mutation(s) in | Assessed | HGNC:10298 | ENSG00000147403 | 312173 | Xq28 | ribosomal protein L10 | 26290468[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26290468[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26290468[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.
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HPO phenotypes
63 annotations · validated 2020-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0040080 | Anteverted ears | |
| HP:0001251 | Ataxia | |
| HP:0000717 | Autism | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008947 | Floppy infant | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000577 | Exotropia | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0007359 | Focal-onset seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001007 | Hirsutism | |
| HP:0000047 | Hypospadias | |
| HP:0002540 | Inability to walk | |
| HP:0031535 | Increased theta frequency activity in EEG | |
| HP:0000023 | Inguinal hernia | |
| HP:0001601 | Laryngomalacia | |
| HP:0012032 | Lipoma | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0005750 | Lower-limb joint contracture | |
| HP:0000308 | Microretrognathia | |
| HP:0000545 | Myopia | |
| HP:0000160 | Narrow mouth | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0000939 | Osteoporosis | |
| HP:0001561 | Polyhydramnios | |
| HP:0000411 | Protruding ear | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0002719 | Recurrent infections | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000960 | Sacral dimple | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009381 | Short finger | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000319 | Smooth philtrum | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0012811 | Wide nasal ridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25316788[PMID]_25846674[PMID]_26290468[PMID]_29066376[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/459070
- This record as JSON: /data/d/459070.json