Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
| fr | Syndrome d'hypotonie sévère-retard de développement psychomoteur-strabisme-défaut du septum cardiaque | |
| de | Schwere Hypotonie-psychomotorische Entwicklungsverzögerung-Strabismus-Septumdefekt-Syndrom | |
| es | Síndrome grave de hipotonía-retraso del desarrollo psicomotor-estrabismo-defecto septal cardíaco | |
| it | Sindrome da ipotonia grave, ritardo dello sviluppo psicomotorio, strabismo e difetto del setto cardiaco | |
| nl | Ernstige hypotonie - psychomotorische ontwikkelingsachterstand - strabisme - cardiaal septumdefect-syndroom | |
| pt | Síndrome grave de hipotonia-alterações do desenvolvimento psicomotor-estrabismo-defeito septal cardíaco | |
| pl | Zespół ciężkiej hipotonii, opóźnienia psycho-ruchowego, zeza i wady przegrody serca | |
| cs | Syndrom těžké hypotonie, psychomotorického opoždění, strabismu a defektu komorového septa | |
| uk | Синдром тяжкої гіпотонії-затримки психомоторного розвитку-косоокості-дефекту міжпередсердної перегородки | |
| zh | 严重肌张力低下-精神运动发育迟缓-斜视-心脏间隔缺损综合征 | |
| tr | Ağır hipotoni-psikomotor gelişme geriliği-şaşılık-kardiyak septal defekt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616816 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | attributed | validated |
| MONDO | 0014784 | E | validated | |
| UMLS | C5568849 | 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 (4):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC174 | Disease-causing germline mutation(s) in | Assessed | HGNC:28033 | ENSG00000154781 | 616735 | 3p25.1 | coiled-coil domain containing 174 | 26358778[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26358778[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26358778[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/467176
- This record as JSON: /data/d/467176.json