ORPHA:2107
Hall-Riggs syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hall-Riggs syndrome | |
| fr | Syndrome de Hall-Riggs | |
| de | Hall-Riggs-Syndrom | |
| es | Síndrome de Hall-Riggs | |
| it | Sindrome di Hall-Riggs | |
| nl | Syndroom van Hall-Riggs | |
| pt | Síndrome Hall-Riggs | |
| pl | Zespół Halla i Riggsa | |
| cs | Hallův-Riggsův syndrom | Hall-Riggsův syndrom |
| uk | Синдром Холла-Ріггса | |
| zh | Hall-Riggs综合征 | |
| tr | Hall-Riggs sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234250 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009320 | E | validated | |
| UMLS | C1856198 | E | validated | |
| GARD | 2586 | 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 | 8 cases | Worldwide | Case(s) | Validated | 11185076[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11185076[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0000463 | Anteverted nares | |
| HP:0000286 | Epicanthus | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0012471 | Thick vermilion border | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0002208 | Coarse hair | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001508 | Failure to thrive | |
| HP:0000316 | Hypertelorism | |
| HP:0009826 | Limb undergrowth | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000926 | Platyspondyly | |
| HP:0000448 | Prominent nose | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002217 | Slow-growing hair | |
| HP:0100874 | Thick hair | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0001387 | Joint stiffness | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2107
- This record as JSON: /data/d/2107.json