Keipert syndrome
Synonyms: Nasodigitoacoustic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keipert syndrome | Nasodigitoacoustic syndrome |
| fr | Syndrome de Keipert | Syndrome naso-digito-acoustique |
| de | Keipert-Syndrom | Naso-digito-akustisches Syndrom |
| es | Síndrome de Keipert | Síndrome naso dígito acústico |
| it | Sindrome di Keipert | Sindrome naso-digito-acustica |
| nl | Syndroom van Keipert | Naso-digito-akoestisch syndroom |
| pt | Síndrome Keipert | Síndrome naso-digito-acústico |
| pl | Zespół Keiperta | Zespół nosowo-palcowo-akustyczny |
| cs | Keipertův syndrom | Nazodigitoakustický syndrom |
| uk | Синдром Кейперта | Назодигітоакустичний синдром |
| zh | Keipert综合征 | 鼻指（趾）听觉综合征 |
| tr | Keipert sendromu | Nazodijitoakustik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301026 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009720 | E | validated | |
| MeSH | C538337 | E | validated | |
| UMLS | C1850627 | E | validated | |
| GARD | 267 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4452 | ENSG00000076716 | 300168 | Xq26.2 | glypican 4 | 30982611[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 21567928[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21567928[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0000337 | Broad forehead | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010109 | Short hallux | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0001609 | Hoarse voice | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000256 | Macrocephaly | |
| HP:0000508 | Ptosis | |
| HP:0010804 | Tented upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2662
- This record as JSON: /data/d/2662.json