Intellectual disability-myopathy-short stature-endocrine defect syndrome
historical
Synonyms: Chudley-Rozdilsky syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-myopathy-short stature-endocrine defect syndrome | Chudley-Rozdilsky syndrome |
| fr | Syndrome de déficience intellectuelle-myopathie-petite taille-défaut endocrinien | Syndrome de Chudley-Rozdilsky |
| de | Intelligenzminderung-Myopathie-Kleinwuchs-endokrine Störung-Syndrom | Chudley-Rozdilsky-Syndrome |
| es | Síndrome de discapacidad intelectual-miopatía-talla baja-defecto endocrino | Síndrome de Chudley-Rozdilsky |
| it | Sindrome da disabilità intellettiva-miopatia-bassa statura-difetto endocrino | Sindrome Chudley-Rozdilsky |
| nl | Intellectuele achterstand - myopathie - kleine gestalte - endocrien defect-syndroom | Syndroom van Chudley-Rozdilsky |
| pt | Síndrome de perturbação do desenvolvimento intelectual-miopatia-baixa estatura-alterações endócrinas | Síndrome Chudley-Rozdilsky |
| pl | Niepełnosprawność intelektualna - miopatia - niski wzrost - zaburzenia endokrynologiczne | Zespół Chudley'a i Rozdilsky'ego |
| cs | Syndrom zahrnující mentální retardaci, myopatii, malý vzrůst a endokrinní poruchu | Chudleyho-Rozdilskyho syndrom · Chudley-Rozdilskyho syndrom |
| uk | Синдром інтелектуальної недостатності - міопатії - низькорослості-ендокринної недостатності | Синдром Чадлі-Роздільського |
| zh | 智力障碍-肌病-身材矮小-内分泌缺陷综合征 | Chudley-Rozdilsky综合征 |
| tr | Zihinsel yetersizlik-miyopati-kısa boy-endokrin defekt sendromu | Chudley-Rozdilsky sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253320 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0009671 | E | validated | |
| MeSH | C535458 | E | validated | |
| UMLS | C1854663 | E | validated | |
| GARD | 1358 | 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 (2):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 3970066[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3970066[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010628 | Facial palsy | |
| HP:0003307 | Hyperlordosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000545 | Myopia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002231 | Sparse body hair | |
| Frequent (79-30%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000324 | Facial asymmetry | |
| HP:0000768 | Pectus carinatum | |
| HP:0002575 | Tracheoesophageal fistula | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3068
- This record as JSON: /data/d/3068.json