ORPHA:1974
Autosomal recessive faciodigitogenital syndrome
Synonyms: Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type · Teebi-Naguib-Alawadi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive faciodigitogenital syndrome | Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type · Teebi-Naguib-Alawadi syndrome |
| fr | Syndrome faciodigitogénital autosomique récessif | Syndrome d'Aarskog-like · Syndrome de Teebi-Naguib-al Awadi · Syndrome facio-digito-génital type Koweït |
| de | Fazio-digito-genitales Syndrom, autosomal-rezessive Form | Aarskog-ähnliches Syndrom · Fazio-digito-genitales Syndrom vom Typ Kuwait · Teebi-Naguib-Alawadi-Syndrom |
| es | Síndrome facio-dígito-genital autosómico recesivo | Síndrome de Teebi-Naguib-Alawadi · Síndrome facio-dígito-genital tipo Kuwait · Síndrome similar a Aarskog |
| it | Sindrome facio-digito-genitale, forma recessiva | Sindrome Aarskog-simile · Sindrome di Teebi-Naguib-Al Alawadi · Sindrome facio-digito-genitale, tipo Kuwait |
| nl | Autosomaal recessief faciodigitogenitaal syndroom | Aarskog-achtig syndroom · Faciodigitogenitaal syndroom, Koeweit-type · Syndroom van Teebi-Naguib-Alawadi |
| pt | Síndrome facio-digito-genital autossómica recessiva | Síndrome Aarskog-like · Síndrome Teebi-Naguib-Alawadi |
| pl | Autosomalny recesywny zespół twarzowo-palcowo-płciowy | Zespół podobny do zespołu Aarskoga · Zespół Teebi, Naguib i Alawadi · Zespół twarzowo-palcowo-płciowy typu kuwejckiego |
| cs | Autozomálně recesivní faciodigitogenitální syndrom | Aarskog-like syndrom · Faciodigitogenitální syndrom, kuvajtský typ · Teebiho-Naguibův-Al-Awadiové syndrom · Teebi-Naguib-Al-Awadiové syndrom |
| uk | Аутосомно-рецесивний фаціодигітогенітальний синдром | Синдром, подібний до синдрому Аарскога · Фаціодігітогенітальний синдром, кувейтський тип · Синдром Тібі-Нагіба-Алаваді |
| zh | 常染色体隐性遗传面-指-生殖器综合征 | 面-指-生殖器综合征，Kuwait型 |
| tr | Otozomal resesif fasiyodigitogenital sendrom | Aarskog-benzeri sendrom · Teebi-Naguib-Alawadi sendromu · Fasiyo-dijito-genital sendrom, Kuveyt tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227330 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009209 | E | validated | |
| UMLS | C1856871 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 3398008[PMID]_1770541[PMID]_20607856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3398008[PMID]_1770541[PMID]_20607856[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
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002002 | Deep philtrum | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0006101 | Finger syndactyly | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000472 | Long neck | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000049 | Shawl scrotum | |
| HP:0003196 | Short nose | |
| HP:0000506 | Telecanthus | |
| HP:0000325 | Triangular face | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0010807 | Open bite | |
| HP:0000396 | Overfolded helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002208 | Coarse hair | |
| HP:0011359 | Dry hair | |
| HP:0000974 | Hyperextensible skin | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0000347 | Micrognathia | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000349 | Widow's peak | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1974
- This record as JSON: /data/d/1974.json