ORPHA:477993
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Synonyms: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome |
| fr | Syndrome d'anomalies du palais-diastèmes multiples-dysmorphie faciale-retard de développement | Syndrome d'anomalies palatines-diastèmes multiples-dysmorphie faciale-retard de développement |
| de | Gaumenanomalien-weiter Zahnabstand-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom | Gaumenanomalien-multiple Diastemata-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom |
| es | Síndrome de anomalías palatales-dientes ampliamente espaciados-dismorfia facial-retraso del desarrollo | Síndrome de anomalías palatales-diastemas múltiples-dismorfia facial-retraso del desarrollo |
| it | Sindrome da anomalie del palato, denti iperdistanziati, dismorfismi facciali e ritardo dello sviluppo | |
| nl | Anomalieën gehemelte - ver uit elkaar staande tanden - faciale dysmorfie - ontwikkelingsachterstand-syndroom | Anomalieën van gehemelte - meervoudige diastemen - faciale dysmorfie - ontwikkelingsachterstand-syndroom |
| pt | Síndrome de anomalias do palato-diastemes múltiplos-dismorfia facial-alterações do desenvolvimento | |
| pl | Zespół wad podniebienia, szeroko rozstawionych zębów, dysmorfii twarzy i opóźnienia w rozwoju | Zespół wad podniebienia, mnogich diastem, dysmorfii twarzy i opóźnienia w rozwoju |
| cs | Syndrom zahrnující anomálie patra, širokými trematy, faciální dysmorfismus a vývojové opoždění | Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome · Syndrom zahrnující anomálii patra, mnohočetná diastemata, obličejový dysmorfismus a opožděný vývoj |
| uk | Синдром аномалії піднебіння-широко розташованих зубів-дизморфізму обличчя-затримки розвитку | Синдром аномалії піднебіння - множинні діастеми - дизморфізм обличчя - затримки розвитку |
| zh | 腭畸形-牙齿间距大-面部畸形-发育迟缓综合征 | 腭畸形-多发性纵裂-面部畸形-发育迟缓综合症 |
| tr | Damak anomalileri-geniş diş aralığı-fasiyal dismorfizmi-gelişme geriliği sendromu | Damak anomalileri-çoklu diastemata-fasiyal dismorfizm-gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616728 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014751 | E | validated | |
| UMLS | C5567644 | 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 (4):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDM1A | Disease-causing germline mutation(s) in | Assessed | HGNC:29079 | ENSG00000004487 | 609132 | 1p36.12 | lysine demethylase 1A | 24838796[PMID]_26656649[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24838796[PMID]_26656649[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24838796[PMID]_26656649[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
42 annotations · validated 2020-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0011078 | Abnormality of canine | |
| HP:0001156 | Brachydactyly | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000577 | Exotropia | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0011220 | Prominent forehead | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000592 | Blue sclerae | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0000041 | Chordee | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002169 | Clonus | |
| HP:0030048 | Colpocephaly | |
| HP:0000028 | Cryptorchidism | |
| HP:0012448 | Delayed myelination | |
| HP:0012081 | Enlarged cerebellum | |
| HP:0009890 | High anterior hairline | |
| HP:0000316 | Hypertelorism | |
| HP:0000998 | Hypertrichosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000047 | Hypospadias | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000256 | Macrocephaly | |
| HP:0011832 | Narrow nasal tip | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001655 | Patent foramen ovale | |
| HP:0009778 | Short thumb | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000664 | Synophrys | |
| HP:0001182 | Tapered finger | |
Annotation source: 24838796[PMID]_26656649[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477993
- This record as JSON: /data/d/477993.json