Alazami syndrome
Synonyms: Microcephalic primordial dwarfism, Alazami type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alazami syndrome | Microcephalic primordial dwarfism, Alazami type |
| fr | Syndrome d'Alazami | Nanisme microcéphalique primordial type Alazami |
| de | Alazami-Syndrom | Kleinwuchs, mikrozephaler primordialer, Typ Alazami |
| es | Síndrome de Alazami | Enanismo primordial microcefálico tipo Alazami |
| it | Sindrome di Alazami | |
| nl | Syndroom van Alazami | Microcefale primordiale dwerggroei, Alazami-type |
| pt | Síndrome Alazami | Nanismo primordial microcefálico, tipo Alazami |
| pl | Pierwotna karłowatość mikrocefaliczna typu Alazamiego | = en |
| cs | Mikrocefalické primordiální trpaslictví, Alazamiho typ | = en |
| uk | Синдром Алазамі | Мікроцефальна первинна карликовість, тип Алазамі |
| zh | Alazami型小头原发性侏儒症 | Alazami综合征 |
| tr | Mikrosefalik primordiyal cücelik, Alazami tipi | Alazami sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615071 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | attributed | validated |
| MONDO | 0014031 | E | validated | |
| UMLS | C3554439 | 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 (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LARP7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24912 | ENSG00000174720 | 612026 | 4q25 | La ribonucleoprotein 7, transcriptional regulator | 22865833[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 22865833[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22865833[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
31 annotations · validated 2019-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000490 | Deeply set eye | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000154 | Wide mouth | |
| HP:0000445 | Wide nose | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000739 | Anxiety | |
| HP:0000965 | Cutis marmorata | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0040196 | Mild microcephaly | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000322 | Short philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0012471 | Thick vermilion border | |
| HP:0001072 | Thickened skin | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0000315 | Abnormality of the orbital region | |
| HP:0001631 | Atrial septal defect | |
| HP:0011220 | Prominent forehead | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000742 | Self-mutilation | |
| HP:0002360 | Sleep abnormality | |
| HP:0010535 | Sleep apnea | |
| HP:0003100 | Slender long bone | |
| HP:0012171 | Stereotypical hand wringing | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30006060[PMID]_26374271[PMID]_22865833[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319671
- This record as JSON: /data/d/319671.json