Autosomal recessive multiple pterygium syndrome
ORPHA:2990Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)65
Очень частый (80–99%)11
HP:0000465Webbed neck
HP:0000766Abnormal sternum morphology
HP:0000767Pectus excavatum
HP:0001040Multiple pterygia
HP:0001060Axillary pterygia
HP:0001376Limitation of joint mobility
HP:0002650Scoliosis
HP:0006101Finger syndactyly
HP:0009756Popliteal pterygium
HP:0009760Antecubital pterygium
HP:0009773Symphalangism affecting the phalanges of the hand
Частый (30–79%)28
HP:0000135Hypogonadism
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000252Microcephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000307Pointed chin
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000492Abnormal eyelid morphology
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001760Abnormal foot morphology
HP:0002643Neonatal respiratory distress
HP:0002804Arthrogryposis multiplex congenita
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0008065Aplasia/Hypoplasia of the skin
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011842Abnormality of skeletal morphology
HP:0100022Abnormality of movement
HP:0100490Camptodactyly of finger
Периодический (5–29%)26
HP:0030680Abnormal cardiovascular system morphology
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000157Abnormality of the tongue
HP:0000175Cleft palate
HP:0000268Dolichocephaly
HP:0000343Long philtrum
HP:0000364Hearing abnormality
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000902Rib fusion
HP:0001059Pterygium
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0001646Abnormal aortic valve morphology
HP:0002089Pulmonary hypoplasia
HP:0002162Low posterior hairline
HP:0003202Skeletal muscle atrophy
HP:0003298Spina bifida occulta
HP:0003764Nevus
HP:0004942Aortic aneurysm
HP:0008729Absence of labia majora
HP:0008736Hypoplasia of penis
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 64 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)