ORPHA:480880
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Synonyms: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females |
| fr | Syndrome de dysmorphie faciale-petite taille-atrésie des choanes-déficience intellectuelle lié à l'X limité à la femme | Syndrome de dysmorphie faciale-petite taille-atrésie choanale-déficience intellectuelle lié à l'X limité à la femme |
| de | X-chromosomale Gesichtsdysmorphien-Kleinwuchs-Choanalatresie-Intelligenzminderung-Syndrom, auf das weibl. Geschl. beschränkt | |
| es | Dismorfia facial restringida a mujeres ligada al cromosoma X-talla baja-atresia de coanas-discapacidad intelectual | Síndrome de dismorfia facial-talla baja-atresia de coanas-discapacidad intelectual restringido a mujeres ligado al cromosoma X |
| it | Dismorfismi facciali-bassa statura-atresia delle coane-disabilità intellettiva legata all'X limitata alle femmine | Sindrome dismorfismi facciali-bassa statura-atresia delle coane-disabilità intellettiva legata all'X limitata alle femmine |
| nl | X-gebonden tot vrouwen beperkte faciale dysmorfie - kleine gestalte - choane atresie - intellectuele achterstand | X-gebonden faciale dysmorfie - kleine gestalte - choane atresie - intellectuele achterstand-syndroom beperkt tot vrouwen |
| pt | Dismorfia facial-baixa estatura-atrésia das coanas-perturbação do desenvolvimento intelectual ligada ao X restrito ao feminino | Dismorfia facial ligada ao X-baixa estatura-atrésia das coanas-perturbação do desenvolvimento intelectual restrito ao feminino |
| pl | Dysmorfia twarzy-niski wzrost-atrezja nozdrzy-niepełnosprawność intelektualna sprzężona z chromosomem X występująca u kobiet | = en |
| cs | X-vázaná mentální retardace s faciálním dysmorfismem, malým vzrůstem, choanální atrézií omezená na ženské pohlaví | X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females · Syndrom X-vázaného obličejového dysmorfismu, malého vzrůstu, choanální atrézie a mentálního postižení omezený na ženy |
| uk | Х-зчеплений жіночий обмежений дизморфізм обличчя-низькорослість-атрезія хоан-розумова відсталість | Х-зчеплений синдром дизморфізму обличчя - низького зросту - атрезії хоан - інтелектуальної недостатності, характерний лише для жінок |
| zh | X连锁-仅限于女性-面部畸形-身材矮小-鼻后孔闭锁-智力障碍 | = en |
| tr | X'e bağlı kadında görülen yüz dismorfizmi-kısa boy-koanal atrezi-zihinsel yetersizlik | X-bağlı fasiyal dismorfizmi-kısa boy-koanal atrezi-kadınlarla sınırlı zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300968 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018821 | E | validated | |
| UMLS | C5567523 | E | validated | |
| GARD | 13638 | 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: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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| USP9X | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12632 | ENSG00000124486 | 300072 | Xp11.4 | ubiquitin specific peptidase 9 X-linked | 26833328[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 26833328[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26833328[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
90 annotations · validated 2019-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| Frequent (79-30%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0002023 | Anal atresia | |
| HP:0000453 | Choanal atresia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0008947 | Floppy infant | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0030928 | 1-minute APGAR score of 1 | |
| HP:0030925 | 5-minute APGAR score of 5 | |
| HP:0031508 | Abnormal thyroid hormone level | |
| HP:0004298 | Abnormality of the abdominal wall | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0410026 | Abnormality of the periodontium | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000483 | Astigmatism | |
| HP:0001631 | Atrial septal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0012444 | Brain atrophy | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000175 | Cleft palate | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0002212 | Curly hair | |
| HP:0004095 | Curved fingers | |
| HP:0100890 | Cyst of the ductus choledochus | |
| HP:0000823 | Delayed puberty | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0011968 | Feeding difficulties | |
| HP:0000454 | Flared nostrils | |
| HP:0001288 | Gait disturbance | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001822 | Hallux valgus | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001385 | Hip dysplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0005722 | Hyperextensible thumb | |
| HP:0000540 | Hypermetropia | |
| HP:0000998 | Hypertrichosis | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0001382 | Joint hypermobility | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0002664 | Neoplasm | |
| HP:0000938 | Osteopenia | |
| HP:0001845 | Overlapping toe | |
| HP:0010499 | Patellar subluxation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001761 | Pes cavus | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0000448 | Prominent nose | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| HP:0000110 | Renal dysplasia | |
| HP:0002098 | Respiratory distress | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001238 | Slender finger | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0000506 | Telecanthus | |
| HP:0012471 | Thick vermilion border | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0000692 | Tooth malposition | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0012810 | Wide nasal base | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28377321[PMID]_30828969[PMID]_24690944[PMID]_26833328[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480880
- This record as JSON: /data/d/480880.json