Qazi-Markouizos syndrome
historical
Synonyms: Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Qazi-Markouizos syndrome | Dysharmonic skeletal maturation-muscular fiber disproportion syndrome |
| fr | Syndrome de Qazi-Markouizos | Syndrome de maturation osseuse dysharmonieuse-fibres musculaires anormales |
| de | Qazi-Markouizos-Syndrom | Dysharmonische Skelettreifung-Muskelfaser-Disproportion-Syndrom |
| es | Síndrome de Qazi-Markouizos | Maduración ósea disharmónica-fibras musculares anómalas |
| it | Sindrome di Qazi-Markouizos | Mutazione ossea disarmonica - anomalie delle fibre muscolari |
| nl | Syndroom van Qazi-Markouizos | Disharmonische skeletale maturatie - spiervezel-disproportie-syndroom |
| pt | Síndrome Qazi-Markouizos | Síndrome de maturação esquelética desarmónica-desproporção das fibras musculares |
| pl | Zespół Qazi i Markouizosa | Nieharmonijne dojrzewanie szkieletu - dysproporcja włókien mięśniowych |
| cs | Qaziho-Markouizosův syndrom | Syndrom zahrnující dysharmonickou maturaci skeletu a disproporci svalových vláken · Qazi-Markouizosův syndrom |
| uk | Синдром Казі-Маркуізоса | Синдром дисгармонійного дозрівання скелета та диспропорції мязових волокон |
| zh | Qazi-Markouizos综合征 | 骨骼发育不协调-肌纤维不平衡综合征 |
| tr | Qazi-Markouizos sendromu | Disharmonik iskelet olgunlaşma-kas lifi orantısızlık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600096 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010816 | E | validated | |
| MeSH | C536259 | E | validated | |
| UMLS | C2931142 | E | validated | |
| GARD | 371 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological 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:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8064821[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8064821[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.
HPO phenotypes
23 annotations · validated 2019-03-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012450 | Chronic constipation | |
| HP:0001216 | Delayed ossification of carpal bones | |
| HP:0200000 | Dysharmonic bone age | |
| HP:0002353 | EEG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0002719 | Recurrent infections | |
| HP:0001250 | Seizure | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000289 | Broad philtrum | |
| HP:0002307 | Drooling | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0000194 | Open mouth | |
| HP:0000767 | Pectus excavatum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001792 | Small nail | |
| HP:0000486 | Strabismus | |
| HP:0000473 | Torticollis | |
Annotation source: 8064821[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3010
- This record as JSON: /data/d/3010.json