ORPHA:2658
Lenz-Majewski hyperostotic dysplasia
Synonyms: Lenz-Majewski hyperostotic dwarfism · Lenz-Majewski syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by growth delay, generalized and progressive craniotubular hyperostosis, intellectual disability, distinct craniofacial appearance, dental anomalies, loose skin, and distal-limb anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lenz-Majewski hyperostotic dysplasia | Lenz-Majewski hyperostotic dwarfism · Lenz-Majewski syndrome |
| fr | Dysplasie hyperostosique de Lenz-Majewski | Nanisme hyperostosique de Lenz-Majewski · Syndrome de Lenz-Majewski |
| de | Kleinwuchs, hyperostotischer, Typ Lenz-Majewski | Lenz-Majewski-Syndrom |
| es | Displasia hiperostótica de Lenz-Majewski | Enanismo hiperostótico de Lenz-Majewski · Síndrome de Lenz-Majewski · Talla baja significativa hiperostótica de Lenz-Majewski |
| it | Displasia iperostotica di Lenz-Majewski | Nanismo iperostotico di Lenz-Majewski · Sindrome Lenz-Majewski |
| nl | Hyperostotische dysplasie Lenz-Majewski | Hyperostotische dysplasie, Lenz-Majewski-type · Lenz-Majewski hyperostotische dwerggroei · Syndroom van Lenz-Majewski |
| pt | Displasia hiperostótica Lenz-Majewski | Nanismo hiperostótico Lenz-Majewski · Síndrome Lenz-Majewski |
| pl | Dysplazja hiperostotyczna Lenza-Majewskiego | = en |
| cs | Lenzovo-Majewského hyperostické trpaslictví | Lenz-Majewského hyperostické trpaslictví |
| uk | Гіперостотична карликовість Ленца-Маєвського | |
| zh | Lenz-Majewski骨肥厚侏儒症 | |
| tr | Lenz-Majewski hiperostotik cücelik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151050 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007892 | E | validated | |
| MeSH | C537115 | E | validated | |
| UMLS | C0432269 | E | validated | |
| GARD | 3223 | 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 (3):
- 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:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTDSS1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9587 | ENSG00000156471 | 612792 | 8q22.1 | phosphatidylserine synthase 1 | 24241535[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 40524567[PMID]_ORPHANET | |
| 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
58 annotations · validated 2017-06-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0006660 | Aplastic clavicles | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0000453 | Choanal atresia | |
| HP:0004437 | Cranial hyperostosis | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005465 | Facial hyperostosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000239 | Large fontanelles | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011002 | Osteopetrosis | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0001582 | Redundant skin | |
| HP:0003510 | Severe short stature | |
| HP:0004279 | Short palm | |
| HP:0001328 | Specific learning disability | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0002684 | Thickened calvaria | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000036 | Abnormality of the penis | |
| HP:0000028 | Cryptorchidism | |
| HP:0003070 | Elbow ankylosis | |
| HP:0000039 | Epispadias | |
| HP:0010628 | Facial palsy | |
| HP:0100541 | Femoral hernia | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0003241 | External genital hypoplasia | |
| HP:0002705 | High, narrow palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0000135 | Hypogonadism | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001252 | Hypotonia | |
| HP:0002808 | Kyphosis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002650 | Scoliosis | |
| HP:0000176 | Submucous cleft hard palate | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15266607[PMID]_19079258[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2658
- This record as JSON: /data/d/2658.json