Lipodystrophy-intellectual disability-deafness syndrome
Synonyms: Lipodystrophy-intellectual disability-hearing loss syndrome · Rajab-Spranger syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipodystrophy-intellectual disability-deafness syndrome | Lipodystrophy-intellectual disability-hearing loss syndrome · Rajab-Spranger syndrome |
| fr | Syndrome de lipodystrophie-déficience intellectuelle-surdité | Syndrome de Rajab-Spranger |
| de | Lipodystrophie-Intelligenzminderung-Schwerhörigkeit-Syndrom | Rajab-Spranger-Syndrom |
| es | Síndrome de lipodistrofia-discapacidad intelectual-sordera | Síndrome de Rajab-Spranger · Síndrome de lipodistrofia-discapacidad intelectual-hipoacusia |
| it | Lipodistrofia - ritardo mentale - sordità | Sindrome di Rajab-Spranger |
| nl | Lipodystrofie - intellectuele achterstand - doofheid-syndroom | Lipodystrofie - intellectuele achterstand - gehoorverlies-syndroom · Syndroom van Rajab-Spranger |
| pt | Síndrome de lipodistrofia-perturbação do desenvolvimento intelectual-surdez | Síndrome Rajab-Spranger · Síndrome de lipodistrofia-perturbação do desenvolvimento intelectual-perda auditiva |
| pl | Lipodystrofia - niepełnosprawność intelektualna - głuchota | Zespół Rajaba i Sprangera |
| cs | Syndrom zahrnující lipodystrofii, mentální retardaci a hluchotu | Rajabové-Sprangerův syndrom · Rajab-Sprangerův syndrom |
| uk | Синдром ліподистрофії-інтелектуальної недостатності-глухоти | Синдром ліподистрофії-інтелектуальної недостатності- втрати слуху · Синдром Раджаба-Спренджера |
| zh | 脂肪代谢异常-智力残疾-耳聋综合征 | 脂质营养不良-智力障碍-听力丧失综合征 |
| tr | Lipodistrofi-zihinsel yetersizlik-sağırlık sendromu | Rajab-Spranger sendromu · Lipodistrofi-zihinsel yetersizlik-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608154 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 11976 | E | validated | |
| UMLS | C4302920 | 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 (8):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93447Primary bone dysplasia with defective bone mineralization
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 12923870[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12923870[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100959 | Dense metaphyseal bands | |
| HP:0001508 | Failure to thrive | |
| HP:0009064 | Generalized lipodystrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000938 | Osteopenia | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0001533 | Slender build | |
| HP:0004993 | Slender long bones with narrow diaphyses | |
| HP:0001518 | Small for gestational age | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12923870[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50811
- This record as JSON: /data/d/50811.json