Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
historical
Synonyms: Johnson-Munson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | Johnson-Munson syndrome |
| fr | Syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale | Syndrome de Johnson-Munson |
| de | Aphalangie-Hemivertebrae-urogenital-intestinale Dysgenesie-Syndrom | Johnson-Munson-Syndrom |
| es | Síndrome de afalangia-hemivértebras-disgenesia urogenital-intestinal | Síndrome de Johnson-Munson |
| it | Afalangia - emivertebre - disgenesia urogenitale-intestinale | Sindrome di Johnson-Munson |
| nl | Afalangie - hemivertebrae - urogenitale-intestinale dysgenesie-syndroom | Syndroom van Johnson-Munson |
| pt | Síndrome de afalangia-hemivertebras-disgenesia urogenital e intestinal | Síndrome Johnson-Munson |
| pl | Brak paliczków - półkręgi - dysgenezja moczowo-płciowo-jelitowa | Zespół Johnsona i Munsona |
| cs | Syndrom zahrnující afalangii a hemivertebrae-urogenitálně-intestinální dysgenezi | Johnsonův-Munsonův syndrom · Johnson-Munsonův syndrom |
| uk | Синдром афалангії-гемівертебрально-урогенітально-кишкового дисгенезу | Синдром Джонсона-Мансона |
| zh | 无指（趾）畸形-半锥体-泌尿生殖道-肠发育不全综合征 | Johnson-Munson综合征 |
| tr | Afalanji-hemivertebra-ürogenital-bağırsak disgenezi sendromu | Johnson-Munson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207620 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008806 | E | validated | |
| MeSH | C535881 | E | validated | |
| UMLS | C1859754 | E | validated | |
| GARD | 3051 | 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 (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 3 cases | Worldwide | Case(s) | Validated | 2282714[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2282714[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | |
| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | |
| HP:0002937 | Hemivertebrae | |
| HP:0001839 | Split foot | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0001798 | Anonychia | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0003042 | Elbow dislocation | |
| HP:0006101 | Finger syndactyly | |
| HP:0001562 | Oligohydramnios | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0012621 | Persistent cloaca | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001770 | Toe syndactyly | |
| HP:0004320 | Vaginal fistula | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1112
- This record as JSON: /data/d/1112.json