Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dysplasia-digital anomalies-intellectual disability syndrome | |
| fr | Syndrome de dysplasie mésomélique-anomalies digitales-déficience intellectuelle | |
| de | Mesomele Dysplasie-digitale Anomalien-Intelligenzminderung-Syndrom | |
| es | Síndrome de displasia mesomélica-anomalias digitales-discapacidad intelectual | |
| it | Sindrome displasia mesomelica-anomalie delle dita-disabilità intellettiva | |
| nl | Mesomele dysplasie - digitale anomalieën - intellectuele achterstand-syndroom | KINSSHIP-syndroom |
| pt | Síndrome de displasia mesomélica-anomalias digitais-perturbação do desenvolvimento intelectual | Síndrome KINSSHIP |
| pl | Zespół dysplazji mezomelicznej - anomalii palców - niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující podkovovitou ledvinu, Nievergeltovu/Savarirayanovu mezomelickou dysplázii, epilepsii, hypertrichózu, mentální retardaci a postižení plic | |
| uk | Синдром мезомелічної дисплазії-аномалій пальців-інтелектуальної недостатності |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619297 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0858998 | E | validated | |
| UMLS | C5816803 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| AFF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6473 | ENSG00000144218 | 601464 | 2q11.2 | ALF transcription elongation factor 3 | 33961779[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 18616733[PMID]_31388108[PMID]_33961779[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 18616733[PMID]_31388108[PMID]_33961779[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/632603
- This record as JSON: /data/d/632603.json