X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
ORPHA:480880Malformation syndromeX-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)90
Очень частый (80–99%)2
HP:0001263Global developmental delay
HP:0002342Intellectual disability, moderate
Частый (30–79%)11
HP:0000119Abnormality of the genitourinary system
HP:0000453Choanal atresia
HP:0000478Abnormality of the eye
HP:0001305Dandy-Walker malformation
HP:0002023Anal atresia
HP:0002079Hypoplasia of the corpus callosum
HP:0002536Abnormal cortical gyration
HP:0004322Short stature
HP:0007483Depigmentation/hyperpigmentation of skin
HP:0008947Floppy infant
HP:0100259Postaxial polydactyly
Периодический (5–29%)77
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000324Facial asymmetry
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000448Prominent nose
HP:0000454Flared nostrils
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000692Tooth malposition
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000960Sacral dimple
HP:0000998Hypertrichosis
HP:0001182Tapered finger
HP:0001238Slender finger
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001320Cerebellar vermis hypoplasia
HP:0001321Cerebellar hypoplasia
HP:0001374Congenital hip dislocation
HP:0001376Limitation of joint mobility
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001631Atrial septal defect
HP:0001638Cardiomyopathy
HP:0001643Patent ductus arteriosus
HP:0001761Pes cavus
HP:0001763Pes planus
HP:0001773Short foot
HP:0001822Hallux valgus
HP:0001845Overlapping toe
HP:0002098Respiratory distress
HP:0002119Ventriculomegaly
HP:0002198Dilated fourth ventricle
HP:0002212Curly hair
HP:0002365Hypoplasia of the brainstem
HP:0002557Hypoplastic nipples
HP:0002650Scoliosis
HP:0002664Neoplasm
HP:0002944Thoracolumbar scoliosis
HP:0004095Curved fingers
HP:0004298Abnormality of the abdominal wall
HP:0005272Prominent nasolabial fold
HP:0005280Depressed nasal bridge
HP:0005722Hyperextensible thumb
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010499Patellar subluxation
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
HP:0012444Brain atrophy
HP:0012471Thick vermilion border
HP:0012745Short palpebral fissure
HP:0012810Wide nasal base
HP:00309255-minute APGAR score of 5
HP:00309281-minute APGAR score of 1
HP:0031508Abnormal thyroid hormone level
HP:0100890Cyst of the ductus choledochus
HP:0200055Small hand
HP:0200117Recurrent upper and lower respiratory tract infections
HP:0410026Abnormality of the periodontium
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)