ORPHA:2588
Myhre syndrome
Synonyms: Facial dysmorphism-intellectual disability-short stature-deafness syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome · Myhre-LAPS syndrome · Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myhre syndrome | Facial dysmorphism-intellectual disability-short stature-deafness syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome · Myhre-LAPS syndrome · Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome |
| fr | Syndrome de Myhre | Syndrome de Myhre-LAPS · Syndrome de Myhre-sténose laryngotrachéale-arthropathie-prognathisme-petite taille · Syndrome de dysmorphie faciale-déficience intellectuelle-petite taille-surdité |
| de | Myhre-Syndrom | Gesichtsdysmorphie-Intelligenzminderung-Kleinwuchs-Hörverlust-Syndrom · Myhre-LAPS-Syndrom · Myhre-Laryngotracheale Stenose-Arthropathie-Progenie-Kleinwuchs-Syndrom |
| es | Síndrome de Myhre | Síndrome de Myhre-LAPS · Síndrome de Myhre-estenosis laringotraqueal-artropatía-prognatismo-talla baja · Síndrome de dismorfia facial-discapacidad intelectual-talla baja-hipoacusia · Síndrome de dismorfia facial-discapacidad intelectual-talla baja-sordera |
| it | Sindrome di Myhre | Sindrome dismorfismi facciali-disabilità intellettiva-bassa statura-sordità · Sindrome dismorfismi facciali-disabilità intellettiva-bassa statura-perdita dell'udito · Sindrome di Myhre- LAPS · Sindrome di Myhre-stenosi laringotracheale-artropatia-prognatismo-bassa statura · Dismorfismi facciali - deficit cognitivo - bassa statura - perdita dell'udito |
| nl | Syndroom van Myhre | Faciale dysmorfie - intellectuele achterstand - kleine gestalte - doofheid-syndroom · Faciale dysmorfie - intellectuele achterstand - kleine gestalte - gehoorverlies-syndroom · Myhre - laryngotracheale stenose - artropathie - prognathie - kleine gestalte-syndroom · Myhre-LAPS syndroom |
| pt | Síndrome Myhre | Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-baixa estatura-perda auditiva · Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-baixa estatura-surdez |
| pl | Zespół Myhre | Dysmorfia twarzy - niepełnosprawność intelektualna - niski wzrost - utrata słuchu |
| cs | Myhreův syndrom | Syndrom zahrnující faciální dysmorfismus, mentální retardaci, krátký vzrůst a ztrátu sluchu |
| uk | Синдром Міхре | Дисморфізм обличчя-інтелектуальна неповносправність-низький зріст-глухота · Синдром дисморфізму обличчя-інтелектуальної недостатності-низькорослості- втрати слуху |
| zh | Myhre综合征 | 面部畸形-智力障碍-身材矮小-听力损失综合征 |
| tr | Myhre sendromu | Fasiyal dismorfizm-zihinsel yetersizlik-kısa boy-sağırlık sendromu · Fasiyal dismorfizm-zihinsel yetersizlik-kısa boy-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 139210 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007688 | E | validated | |
| MeSH | C537620 | E | validated | |
| UMLS | C0796081 | E | validated | |
| GARD | 2572 | 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:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMAD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6770 | ENSG00000141646 | 600993 | 18q21.2 | SMAD family member 4 | 22243968[PMID]_22158539[PMID]_24398790[PMID]_24715504[PMID]_24580733[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28406602[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
47 annotations · validated 2017-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0003172 | Abnormality of the pubic bone | |
| HP:0001156 | Brachydactyly | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001387 | Joint stiffness | |
| HP:0008818 | Large iliac wings | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000160 | Narrow mouth | |
| HP:0000926 | Platyspondyly | |
| HP:0003510 | Severe short stature | |
| HP:0004279 | Short palm | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0001328 | Specific learning disability | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000159 | Abnormal lip morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0003457 | EMG abnormality | |
| HP:0008499 | High hypermetropia | |
| HP:0000822 | Hypertension | |
| HP:0000508 | Ptosis | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0000036 | Abnormality of the penis | |
| HP:0000708 | Atypical behavior | |
| HP:0000193 | Bifid uvula | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000039 | Epispadias | |
| HP:0003241 | External genital hypoplasia | |
| HP:0100541 | Femoral hernia | |
| HP:0030690 | Gingival cleft | |
| HP:0000135 | Hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000826 | Precocious puberty | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0100333 | Unilateral cleft lip | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2588
- This record as JSON: /data/d/2588.json