ORPHA:1094
Anonychia-microcephaly syndrome
Synonyms: Teebi-Kaurah syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anonychia-microcephaly syndrome | Teebi-Kaurah syndrome |
| fr | Syndrome d'anonychie-microcéphalie | Syndrome de Teebi-Kaurah |
| de | Anonychie-Mikrozephalie-Syndrom | Teebi-Kaurah-Syndrom |
| es | Síndrome de anoniquia-microcefalia | Síndrome de Teebi-Kaurah |
| it | Anonichia - microcefalia | Sindrome di Teebi-Kaurah |
| nl | Anonychie - microcefalie-syndroom | Syndroom van Teebi-Kaurah |
| pt | Síndrome de anoníquia-microcefalia | Síndrome Teebi-Kaurah |
| pl | Brak paznokci - mikrocefalia | Zespół Teebiego i Kauraha |
| cs | Syndrom zahrnující anonychii a mikrocefalii | Teebiho-Kaurahův syndrom · Teebi-Kaurahův syndrom |
| uk | Синдром аноніхії-мікроцефалії | Синдром Тібі-Каури |
| zh | 甲缺如-小头畸形综合征 | Teebi-Kaurah综合征 |
| tr | Anonişi-mikrosefali sendromu | Teebi-Kaurah sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607214 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011795 | E | validated | |
| MeSH | C536948 | E | validated | |
| UMLS | C2931373 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8985482[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8985482[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.
6
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001798 | Anonychia | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0000670 | Carious teeth | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000340 | Sloping forehead | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1094
- This record as JSON: /data/d/1094.json