ORPHA:435628
Keppen-Lubinsky syndrome
Synonyms: Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keppen-Lubinsky syndrome | Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome |
| fr | Syndrome de Keppen-Lubinsky | Syndrome de lipodystrophie généralisée-traits progéroïdes-déficience intellectuelle sévère |
| de | Keppen-Lubinsky-Syndrom | Generalisierte Lipodystropie-progeroide Merkmale-schwere Intelligenzminderung-Syndrom |
| es | Síndrome de Keppen-Lubinsky | Síndrome de lipodistrofia generalizada-rasgos progeroides-discapacidad intelectual grave |
| it | Sindrome di Keppen-Lubinsky | Sindrome lipodistrofia generalizzata-tratti progeroidi-disabilità cognitiva grave · Sindrome lipodistrofia generalizzata-tratti progeroidi-disabilità cognitiva grave |
| nl | Syndroom van Keppen-Lubinsky | Gegeneraliseerde lipodystrofie - progeroïde kenmerken - ernstige intellectuele achterstand-syndroom |
| pt | Síndrome Keppen-Lubinsky | Síndrome de lipodistrofia generalizada-características progeroides--perturbação do desenvolvimento intelectual grave |
| pl | Zespół Keppenów i Lubinsky'ego | Zespół lipodystrofii uogólnionej, cech progeroidalnych i ciężkiej niepełnosprawności intelektualnej |
| cs | Keppenové-Lubinského syndrom | Syndrom zahrnující generalizovanou lipodystrofii, progeroidní rysy a těžkou mentální retardaci · Keppen-Lubinského syndrom |
| uk | Синдром Кеппена-Любінського | Синдром генералізованої ліподистрофії - прогероїдних ознак - тяжкої інтелектуальної недостатності |
| zh | Keppen-Lubinsky综合征 | 全身性脂肪营养不良-早老症-严重智力障碍综合征 |
| tr | Keppen-Lubinsky sendromu | Jeneralize lipodistrofi-progeroid özellikler-ağır zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614098 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | attributed | validated |
| MONDO | 0013572 | E | validated | |
| UMLS | C3279800 | 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 (4):
- 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:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6267 | ENSG00000157542 | 600877 | 21q22.13 | potassium inwardly rectifying channel subfamily J member 6 | 25620207[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25620207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25620207[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
42 annotations · validated 2016-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009059 | Congenital generalized lipodystrophy | |
| HP:0005328 | Progeroid facial appearance | |
| Very frequent (99-80%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000194 | Open mouth | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0000322 | Short philtrum | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0001090 | Abnormally large globe | |
| HP:0010751 | Chin dimple | |
| HP:0008734 | Decreased testicular size | |
| HP:0002094 | Dyspnea | |
| HP:0001508 | Failure to thrive | |
| HP:0001371 | Flexion contracture | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000218 | High palate | |
| HP:0001276 | Hypertonia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0009125 | Lipodystrophy | |
| HP:0000292 | Loss of facial adipose tissue | |
| HP:0000298 | Mask-like facies | |
| HP:0009933 | Narrow naris | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0002179 | Opisthotonus | |
| HP:0001561 | Polyhydramnios | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000520 | Proptosis | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000586 | Shallow orbits | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002781 | Upper airway obstruction | |
| Occasional (29-5%) | ||
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001250 | Seizure | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25620207[PMID]_19610118[PMID]_12567423[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435628
- This record as JSON: /data/d/435628.json