Pseudoaminopterin syndrome
Synonyms: ASSA · Aminopterin syndrome-like sine aminopterin
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoaminopterin syndrome | ASSA · Aminopterin syndrome-like sine aminopterin |
| fr | Syndrome pseudo-aminoptérine | |
| de | Pseudoaminopterin-Syndrom | ASSA · Aminopterin-ähnliches Syndrom sine Aminopterin |
| es | Síndrome de pseudoaminopterina | |
| it | Sindrome da pseudoaminopterina | ASSA · Sindrome da pseudoaminopterina senza aminopterina |
| nl | Pseudoaminopterinesyndroom | ASSA · Aminopterinesyndroom-achtig zonder aminopterine |
| pt | Síndrome pseudoaminopterina | |
| pl | Zespół pseudoaminopterynowy | ASSA · Zespół podobny do zespołu aminopterynowego bez aminopteryny |
| cs | Pseudoaminopterinový syndrom | ASSA · Syndrom podobný aminopterinovému syndromu, bez expozice aminopterinu |
| uk | Псевдоаміноптериновий синдром | Аміноптериновий синдром, подібний до синусного аміноптерину · ASSA |
| zh | 伪氨基蝶呤综合症 | 氨基蝶呤综合症样氨基喋呤 |
| tr | Psödoaminopterin sendromu | ASSA · Aminopterin sendromu-benzeri sinüs aminopterin |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600325 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0010865 | E | validated | |
| MeSH | C535823 | E | validated | |
| UMLS | C0795939 | E | validated | |
| GARD | 4544 | 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: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
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 | 11 cases | Worldwide | Case(s) | Validated | 22811276[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22811276[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
63 annotations · validated 2019-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000581 | Blepharophimosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002236 | Frontal upsweep of hair | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0002996 | Limited elbow movement | |
| HP:0000347 | Micrognathia | |
| HP:0010657 | Patchy reduction of bone mineral density | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0000387 | Absent earlobe | |
| HP:0001746 | Asplenia | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0100759 | Clubbing of fingers | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0003473 | Fatigable weakness | |
| HP:0008947 | Floppy infant | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0030043 | Hip subluxation | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000238 | Hydrocephalus | |
| HP:0001611 | Hypernasal speech | |
| HP:0009739 | Hypoplasia of the antihelix | |
| HP:0000023 | Inguinal hernia | |
| HP:0003186 | Inverted nipples | |
| HP:0000256 | Macrocephaly | |
| HP:0000691 | Microdontia | |
| HP:0008598 | Mild conductive hearing impairment | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001845 | Overlapping toe | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0002033 | Poor suck | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0025193 | Posterolateral diaphragmatic hernia | |
| HP:0000884 | Prominent sternum | |
| HP:0010767 | Sacrococcygeal pilonidal abnormality | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0000322 | Short philtrum | |
| HP:0009778 | Short thumb | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001238 | Slender finger | |
| HP:0002209 | Sparse scalp hair | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0004684 | Talipes valgus | |
| HP:0006610 | Wide intermamillary distance | |
Annotation source: 3621652[PMID]_7888136[PMID]_19938091[PMID]_22811276[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221120
- This record as JSON: /data/d/221120.json