Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Synonyms: Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome |
| fr | Syndrome de surdité-anomalies génitales-synostoses métacarpiennes et métatarsiennes | Syndrome de Pfeiffer-Kapferer |
| de | Schwerhörigkeit-Genitalanomalien-Metakarpal- und Metatarsalsynostose-Syndrom | Pfeiffer-Kapferer-Syndrom |
| es | Síndrome de sordera-anomalías genitales-sinostosis de metacarpianos y metatarsianos | Síndrome de Pfeiffer-Kapferer · Síndrome de hipoacusia-anomalías genitales-sinostosis de metacarpianos y metatarsianos |
| it | Sordità - ipospadia - sinostosi dei metacarpi e metatarsi | Sindrome di Pfeiffer-Kapferer |
| nl | Doofheid - genitale anomalieën - metacarpale en metatarsale synostose-syndroom | Gehoorverlies - genitale anomalieën - metacarpale en metatarsale synostose-syndroom · Syndroom van Pfeiffer-Kapferer |
| pt | Síndrome de surdez-anomalias genitais-sinostose metacárpica e metatársica | Síndrome Pfeiffer-Kapferer · Síndrome de perda auditiva-anomalias genitais-sinostose metacárpica e metatársica |
| pl | Głuchota - anomalie narządów płciowych - synostoza kości śródręcza i śródstopia | Zespół Pfeiffera i Kapferera |
| cs | Syndrom zahrnující hluchotu, anomálie genitálu a metakarpální a metatarzální synostózy | Pfeifferův-Kapfererův syndrom · Pfeiffer-Kapfererův syndrom |
| uk | Синдром глухоти-генітальних аномалій-синостозу пясткових та плеснових кісток | Синдром втрати слуху-генітальних аномалій- синостозу пясткових та плеснових кісток · Синдром Пфайфера-Капферера |
| zh | 耳聋-生殖器畸形-掌跖骨骨性融合综合征 | Pfeiffer-Kapferer综合征 |
| tr | Sağırlık-genital anomaliler-metakarpal ve metatarsal sinostoz sendromu | İşitme kaybı-genital anomaliler-metakarpal ve metatarsal sinostoz sendromu · Pfeiffer-Kapferer sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017920 | E | validated | |
| MeSH | C537887 | E | validated | |
| UMLS | C2931654 | E | validated | |
| GARD | 4303 | 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: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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 2 cases | Worldwide | Case(s) | Validated | 15887301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15887301[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
28 annotations · validated 2017-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0005105 | Abnormal nasal morphology | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000324 | Facial asymmetry | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0001761 | Pes cavus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0000411 | Protruding ear | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0010109 | Short hallux | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001770 | Toe syndactyly | |
| HP:0001956 | Truncal obesity | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3224
- This record as JSON: /data/d/3224.json