ORPHA:2959
Progeria-short stature-pigmented nevi syndrome
Synonyms: Mulvihill-Smith syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progeria-short stature-pigmented nevi syndrome | Mulvihill-Smith syndrome |
| fr | Syndrome de progeria-petite taille-naevus pigmentés | Syndrome de Mulvihill-Smith · Syndrome de progeria-petite taille-naevi pigmentés |
| de | Progerie - Kleinwuchs - Pigmentnaevi | Mulvihill-Smith-Syndrom |
| es | Síndrome de progeria-talla baja-nevos pigmentados | Síndrome de Mulvihill-Smith |
| it | Progeria - bassa statura - nevi pigmentati | Sindrome di Mulvihill-Smith |
| nl | Progeria - kleine gestalte - gepigmenteerde naevi-syndroom | Syndroom van Mulvihill-Smith |
| pt | Síndrome de progeria-baixa estatura-nevos pigmentados | Síndrome Mulvihill-Smith |
| pl | Progeria - niski wzrost - znamię barwnikowe | Zespół Mulvihilla i Smitha |
| cs | Syndrom zahrnující progerii, malý vzrůst a pigmentové névy | Mulvihillův-Smithův syndrom · Mulvihill-Smithův syndrom |
| uk | Синдром прогерії-низькорослості-пігментних невусів | Синдром Малвігілла-Сміта |
| zh | 早衰-身材矮小-色素痣综合征 | Mulvihill-Smith综合征 |
| tr | Progeria-kısa boy pigmentli nevüs sendromu | Mulvihill-Smith sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176690 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0008311 | E | validated | |
| MeSH | C536422 | E | validated | |
| UMLS | C1261128 | E | validated | |
| GARD | 4494 | 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:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 29718885[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29718885[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
56 annotations · validated 2017-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003808 | Abnormal muscle tone | |
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0001596 | Alopecia | |
| HP:0000585 | Band keratopathy | |
| HP:0000193 | Bifid uvula | |
| HP:0000320 | Bird-like facies | |
| HP:0001156 | Brachydactyly | |
| HP:0002136 | Broad-based gait | |
| HP:0000518 | Cataract | |
| HP:0010536 | Central sleep apnea | |
| HP:0100543 | Cognitive impairment | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0005403 | Decreased total T cell count | |
| HP:0000823 | Delayed puberty | |
| HP:0000689 | Dental malocclusion | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0025124 | Fragile teeth | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0007481 | Hyperpigmented nevi | |
| HP:0000668 | Hypodontia | |
| HP:0000047 | Hypospadias | |
| HP:0002721 | Immunodeficiency | |
| HP:0100785 | Insomnia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0005320 | Lack of facial subcutaneous fat | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000938 | Osteopenia | |
| HP:0003401 | Paresthesia | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0000529 | Progressive visual loss | |
| HP:0004429 | Recurrent viral infections | |
| HP:0001592 | Selective tooth agenesis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0001518 | Small for gestational age | |
| HP:0005115 | Supraventricular arrhythmia | |
| Occasional (29-5%) | ||
| HP:0002572 | Episodic vomiting | |
| HP:0040160 | Generalized osteoporosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001935 | Microcytic anemia | |
| HP:0001270 | Motor delay | |
| HP:0002664 | Neoplasm | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0002943 | Thoracic scoliosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19213035[PMID]_4155966[PMID]_3351893[PMID]_8456831[PMID]_16364148[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2959
- This record as JSON: /data/d/2959.json