ORPHA:589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Synonyms: Liberfarb syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | Liberfarb syndrome |
| fr | Syndrome de petite taille-dysplasie squelettique-dégénérescence rétinienne-déficience intellectuelle-surdité neurosensorielle | Syndrome de Liberfarb |
| de | Kleinwuchs-Skelettdysplasie-Netzhautdystrophie-Intelligenzminderung-sensorineuraler Hörverlust-Syndrom | Liberfarb-Syndrom |
| es | Síndrome de talla baja-displasia esquelética-degeneración retiniana-discapacidad intelectual-hipoacusia neurosensorial | Síndrome de Liberfarb |
| it | Sindrome da bassa statura, displasia scheletrica, degenerazione retinica, disabilità intellettiva, sordità neurosensoriale | Sindrome di Liberfarb |
| nl | Kleine gestalte - skeletdysplasie - retinadegeneratie - intellectuele achterstand - sensorineuraal gehoorverlies-syndroom | Syndroom van Liberfarb |
| pt | Síndrome de baixa estatura-displasia esquelética-degenerescência retiniana-perturbação do desenvolvimento intelectual-perda auditiva neurossensorial | |
| pl | Zespół niskiego wzrostu, dysplazji szkieletowej, degeneracji siatkówki, niepełnosprawności intelektualnej i utraty słuchu czuciowo-nerwowego | Zespół Liberfarba |
| cs | Syndrom zahrnující nízký vzrůst, skeletální dysplázii, degeneraci sítnice, mentální retardaci a senzorineurální ztrátu sluchu | = en |
| uk | Синдром низькорослості-скелетної дисплазії-дегенерації сітківки-інтелектуальної недостатності-сенсоневральної приглухуватості | Синдром Ліберфарба |
| zh | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | = en |
| tr | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618889 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0030045 | E | validated | |
| UMLS | C5394404 | 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 (7):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PISD | Disease-causing germline mutation(s) in | Assessed | HGNC:8999 | ENSG00000241878 | 612770 | 22q12.2 | phosphatidylserine decarboxylase | 31263216[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 30488656[PMID]_31263216[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589442
- This record as JSON: /data/d/589442.json