ORPHA:589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Synonyms: KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| fr | Syndrome d'atrésie des choanes-athélie-hypothyroïdie-retard pubertaire-petit taille | Syndrome d'atrésie des choanes-athélie-hypothyroïdie-retard pubertaire-petit taille associé à KMT2D |
| de | Choanalatresie-Athelie-Hypothyreose-verzögerte Pubertät-Kleinwuchs-Syndrom | KMT2D-assoziierte Choanalatresie mit Athelie, Hypothyreose, verzögerte Pubertät und Kleinwuchs |
| es | Síndrome de atresia de coanas-atelia-hipotiroidismo-retraso puberal-talla baja | Síndrome de atresia de coanas-atelia-hipotiroidismo-retraso puberal-talla baja asociado a KMT2D |
| it | Sindrome atresia delle coane, atelia, ipotiroidismo, ritardo della pubertà, bassa statura | Sindrome atresia delle coane, atelia, ipotiroidismo, ritardo della pubertà, bassa statura correlata a KMT2D |
| nl | Choane atresie - athelie - hypothyreoïdie - vertraagde puberteit - kleine gestalte-syndroom | KMT2D-gerelateerd choane atresie - athelie - hypothyreoïdie - vertraagde puberteit - kleine gestalte-syndroom |
| pt | Síndrome de atrésia das coanas-atelia-hipotiroidismo-puberdade tardia-baixa estatura | |
| pl | Zespół zarośnięcia nozdrzy tylnych, braku brodawek sutkowych, niedoczynności tarczycy, opóźnionego dojrzewania i niskiego wzrostu | Zespół zarośnięcia nozdrzy tylnych, braku brodawek sutkowych, niedoczynności tarczycy, opóźnionego dojrzewania i niskiego wzrostu związany z KMT2D |
| cs | Syndrom zahrnující choanální atrézii, atelii, hypotyreózu, opožděnou pubertu a nízký vzrůst | = en |
| uk | Синдром атрезії хоан-ателії-гіпотиреозу-затримки статевого дозрівання-низькорослості | KMT2D-повязаний синдром атрезіїї хоан-ателії-гіпотиреозу-затримки статевого дозрівання-низького зросту |
| zh | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | = en |
| tr | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620186 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0035651 | E | validated | |
| UMLS | C5680310 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KMT2D | Disease-causing germline mutation(s) in | Assessed | HGNC:7133 | ENSG00000167548 | 602113 | 12q13.12 | lysine methyltransferase 2D | 31949313[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 34369642[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34369642[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589856
- This record as JSON: /data/d/589856.json