ORPHA:2484
Melnick-Needles syndrome
Synonyms: Melnick-Needles osteodysplasty
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melnick-Needles syndrome | Melnick-Needles osteodysplasty |
| fr | Syndrome de Melnick-Needles | Ostéodysplasie de Melnick-Needles |
| de | Melnick-Needles-Syndrom | Osteodysplastie Typ Melnick-Needles |
| es | Síndrome de Melnick-Needles | Osteodisplasia de Melnick-Needles |
| it | Sindrome di Melnick-Needles | Osteodisplasia di Melnick-Needles |
| nl | Syndroom van Melnick-Needles | Osteodysplasie van Melnick-Needles |
| pt | Síndrome Melnick-Needles | Osteodisplasia de Melnick-Needles |
| pl | Zespół Melnicka i Needlesa | Osteodysplazja Melnicka i Needlesa |
| cs | Melnickův-Needlesův syndrom | Melnickova-Needlesova osteodysplázie · Melnick-Needlesův syndrom · Melnick-Needlesova osteodysplázie |
| uk | Синдром Мельника-Нідлза | Остеодиспластика голками Мельника |
| zh | Melnick-Needles综合征 | Melnick-Needles骨发育不良 |
| tr | Melnick-Needles sendromu | Melnick-Needles osteodisplasti |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309350 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD25.1 | NTBT | index | validated |
| MONDO | 0010650 | E | validated | |
| UMLS | C0025237 | E | validated | |
| GARD | 7011 | E | validated | |
| MedDRA | 10060908 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:364541Otopalatodigital syndrome spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522536Structural developmental eye defect of genetic origin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 20186808[PMID]_21031081[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 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
35 annotations · validated 2017-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003172 | Abnormality of the pubic bone | |
| HP:0002879 | Anisospondyly | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0002673 | Coxa valga | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0000126 | Hydronephrosis | |
| HP:0001382 | Joint hypermobility | |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0000894 | Short clavicles | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000692 | Tooth malposition | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0001539 | Omphalocele | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2484
- This record as JSON: /data/d/2484.json