Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Synonyms: Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome |
| fr | Syndrome de microcéphalie-facio-cardio-squelettique, type Hadziselimovic | Syndrome de Hadziselimovic · Syndrome de microcéphalie-faciocardiosquelettique |
| de | Mikrozephalie-fazio-kardio-skelettales Syndrom Typ Hadziselimovic | Hadziselimovic-Syndrom · Mikrozephalie-fazio-kardio-skelettales Syndrom |
| es | Microcefalia-síndrome facio-cardio-esquelético, tipo Hadziselimovic | Síndrome de Hadziselimovic · Síndrome de microcefalia-faciocardioesquelética |
| it | Microcefalia - sindrome facio-cardio-scheletrica, tipo Hadziselimovic | Sindrome di Hadziselimovic · Sindrome faciocardioscheletrica-microcefalia |
| nl | Microcefalie - faciocardioskeletaal syndroom, Hadziselimovic-type | Microcefalie - faciocardioskeletaal syndroom · Syndroom van Hadziselimovic |
| pt | Síndrome de microcefalia-síndrome facio-cardio-esquelético, tipo Hadziselimovic | |
| pl | Zespół twarzowo-sercowo-szkieletowy z makrocefalią | Zespół Hadziselimovica |
| cs | Mikrocefalický faciokardioskeletální syndrom, Hadziselimovičův typ | Mikrocefalie s faciokardioskeletálním syndromem · Hadziselimovičův syndrom |
| uk | Мікроцефалія-фаціально-кардіо-скелетний синдром, тип Хадзіселімовича | Синдром Хадзіселімовича · Мікроцефалія-фаціально-кардіоскелетний синдром |
| zh | Hadziselimovic型小头-面-心-骨骼综合征 | 小头-面-心-骨骼综合征 |
| tr | Mikrosefali-fasiyo-kardiyo-iskelet sendromu, Hadziselimovic tipi | Hadziselimovic sendromu · Mikrosefali-fasiyokardiyoskeletal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612946 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0013053 | E | validated | |
| MeSH | C567850 | E | validated | |
| UMLS | C2751878 | 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:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; 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 | 5 cases | Worldwide | Case(s) | Validated | 11152145[PMID]_19373080[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11152145[PMID]_19373080[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/217026
- This record as JSON: /data/d/217026.json