ORPHA:915
Aarskog-Scott syndrome
Synonyms: Aarskog syndrome · Faciodigitogenital syndrome · Faciogenital dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aarskog-Scott syndrome | Aarskog syndrome · Faciodigitogenital syndrome · Faciogenital dysplasia |
| fr | Syndrome d'Aarskog-Scott | Dysplasie faciogénitale · Syndrome d'Aarskog · Syndrome facio-digito-génital |
| de | Aarskog-Scott-Syndrom | Aarskog-Syndrom · Dysplasie, fazio-genitale · Fazio-genito-digitales Syndrom |
| es | Síndrome de Aarskog-Scott | Displasia faciogenital · Síndrome de Aarskog · Síndrome faciodigitogenital |
| it | Sindrome di Aarskog-Scott | Displasia faciogenitale · Sindrome di Aarskog · Sindrome facio-digito-genitale |
| nl | Syndroom van Aarskog-Scott | Facio-digito-genitaal syndroom · Faciogenitale dysplasie · Syndroom van Aarskog |
| pt | Síndrome Aarskog-Scott | Síndrome facio-digito-genital |
| pl | Zespół Aarskoga i Scotta | Dysplazja twarzowo-płciowa · Zespół Aarskoga · Zespół twarzowo-palcowo-płciowy |
| cs | Aarskogův-Scottův syndrom | Aarskoguv syndrom · Faciodigitogenitální syndrom · Faciogenitální dysplázie · Aarskogův syndrom · Aarskog-Scottův syndrom |
| uk | Синдром Аарскога-Скотта | Синдром Аарскога · Лице-пальцево-генітальний синдром · Фаціогенітальна дисплазія |
| zh | 阿-斯综合征 | 面-指-生殖器综合征 |
| tr | Aarskog-Scott sendromu | Aarskog sendromu · Fasiyogenital displazi · Fasiyodijitogenital sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 100050 | BTNT | validated | |
| OMIM | 305400 | E | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0021005 | E | validated | |
| MONDO | 21005 | E | validated | |
| MeSH | C535331 | E | validated | |
| UMLS | C0175701 | E | validated | |
| GARD | 4775 | E | validated | |
| MedDRA | 10067148 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3663 | ENSG00000102302 | 300546 | Xp11.22 | FYVE, RhoGEF and PH domain containing 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
49 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001769 | Broad foot | |
| HP:0001169 | Broad palm | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000316 | Hypertelorism | |
| HP:0000049 | Shawl scrotum | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0009890 | High anterior hairline | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0001635 | Congestive heart failure | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000286 | Epicanthus | |
| HP:0002816 | Genu recurvatum | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000485 | Megalocornea | |
| HP:0000202 | Orofacial cleft | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/915
- This record as JSON: /data/d/915.json