ORPHA:2865
Short stature-webbed neck-heart disease syndrome
Synonyms: Al Gazali-Aziz-Salem syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-webbed neck-heart disease syndrome | Al Gazali-Aziz-Salem syndrome |
| fr | Syndrome de petite taille-pterygium colli-cardiopathie congénitale | Syndrome d'Al Gazali-Aziz-Salem |
| de | Kleinwuchs-Pterygium colli-Kardiopathie-Syndrom | Al Gazali-Aziz-Salem-Syndrom |
| es | Síndrome de talla baja-cuello alado-trastorno cardiaco | |
| it | Bassa statura - pterigio del collo - cardiopatia | Sindrome di Al Gazali-Aziz-Salem |
| nl | Kleine gestalte - pterygium colli - hartziekte-syndroom | Syndroom van Al Gazali-Aziz-Salem |
| pt | Síndrome de baixa estatura-pterígio do pescoço-cardiopatia | Síndrome Al Gazali-Aziz-Salem |
| pl | Niski wzrost - płetwistość szyi - choroba serca | Zespół Al Gazali, Aziz i Salem |
| cs | Syndrom zahrnující nízký vzrůst, pterygium colli a onemocnění srdce | Al Gazaliové-Azizův-Salemův syndrom · Al Gazali-Aziz-Salemův syndrom |
| uk | Синдром низькорослості-крилоподібної шиї-серцево-судинних захворювань | Синдром Аль-Газалі-Азіза-Салема |
| zh | 身材矮小-蹼状颈-心脏病综合征 | Al-Gazali-Aziz-Salem综合征 |
| tr | Kısa boy perdeli boyun-kalp hastalığı sendromu | Al Gazali-Aziz-Salem sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017315 | E | validated | |
| MeSH | C535613 | E | validated | |
| UMLS | C2930950 | E | validated | |
| GARD | 583 | 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 (2):
- 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
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 | 4 cases | Worldwide | Case(s) | Validated | 8905197[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8905197[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
7 annotations · validated 2019-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0001249 | Intellectual disability | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000465 | Webbed neck | |
Annotation source: 8905197[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2865
- This record as JSON: /data/d/2865.json