Hypoglossia-hypodactyly syndrome
Synonyms: Aglossia-adactylia syndrome · Hanhart syndrome · Jussieu syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoglossia-hypodactyly syndrome | Aglossia-adactylia syndrome · Hanhart syndrome · Jussieu syndrome |
| fr | Syndrome d'hypoglossie-hypodactylie | Syndrome d'aglossie-adactylie · Syndrome de Hanhart · Syndrome de Jussieu |
| de | Hypoglossie-Hypodaktylie-Syndrom | Aglossie-Adaktylie-Syndrom · Hanhart-Syndrom · Jussieu-Syndrom |
| es | Síndrome de hipoglosia-hipodactilia | Síndrome de Hanhart · Síndrome de Jussieu · Síndrome de aglosia-adactilia |
| it | Sindrome ipoglossia - ipodattilia | Sindrome aglossia-adattilia · Sindrome di Hanhart · Sindrome di Jussieu |
| nl | Hypoglossie - hypodactylie-syndroom | Aglossie - adactylie-syndroom · Syndroom van Hanhart · Syndroom van Jussieu |
| pt | Síndrome de hipoglossia-hipodactilia | Aplasia oromandibular e dos membros |
| pl | Zespół niedorozwoju języka i hipodaktylii | Zespół aglosji i adactylii · Zespół Hanharta · Zespół Jussieu |
| cs | Syndrom zahrnující hypoglosii a hypodaktylii | Syndrom zahrnující aglosii a adaktylii · Hanhartův syndrom · Jussieův syndrom |
| uk | Синдром гіпоглосії-гіподактилії | Синдром аглосія-адактилія · Синдром Ганхарта · Синдром Жюссьє |
| zh | 缺舌-缺指综合征 | Aglossia-adactylia综合征 |
| tr | Hipoglosi-hipodaktili sendromu | Hanhart sendromu · Jussieu sendromu · Aglossi-adaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103300 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD25.0Y | NTBT | index | validated |
| MONDO | 0007073 | E | validated | |
| MeSH | C535629 | E | validated | |
| UMLS | C0595985 | E | validated | |
| GARD | 68 | 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 (7):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:2749Oromandibular-limb hypogenesis syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare surgical maxillo-facial 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 | 47 cases | Worldwide | Case(s) | Validated | 23431477[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23431477[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0009813 | Upper limb phocomelia | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0009776 | Adactyly | |
| HP:0006265 | Aplasia/Hypoplasia of fingers | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0006101 | Finger syndactyly | |
| HP:0000668 | Hypodontia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001171 | Split hand | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002023 | Anal atresia | |
| HP:0001522 | Death in infancy | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001543 | Gastroschisis | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0005235 | Jejunal atresia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/989
- This record as JSON: /data/d/989.json