Pseudoaminopterin syndrome
ORPHA:221120Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)63
Частый (30–79%)17
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000426Prominent nasal bridge
HP:0000520Proptosis
HP:0000581Blepharophimosis
HP:0001249Intellectual disability
HP:0002236Frontal upsweep of hair
HP:0002553Highly arched eyebrow
HP:0002996Limited elbow movement
HP:0004322Short stature
HP:0009891Underdeveloped supraorbital ridges
HP:0009911Abnormal temporal bone morphology
HP:0010657Patchy reduction of bone mineral density
HP:0040064Abnormality of limbs
Периодический (5–29%)46
HP:0040025Clinodactyly of the 4th finger
HP:0100259Postaxial polydactyly
HP:0100759Clubbing of fingers
HP:0000023Inguinal hernia
HP:0000085Horseshoe kidney
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000324Facial asymmetry
HP:0000337Broad forehead
HP:0000387Absent earlobe
HP:0000602Ophthalmoplegia
HP:0000691Microdontia
HP:0000767Pectus excavatum
HP:0000884Prominent sternum
HP:0000954Single transverse palmar crease
HP:0001156Brachydactyly
HP:0001238Slender finger
HP:0001263Global developmental delay
HP:0001611Hypernasal speech
HP:0001655Patent foramen ovale
HP:0001746Asplenia
HP:0001763Pes planus
HP:0001845Overlapping toe
HP:0001864Clinodactyly of the 5th toe
HP:0002007Frontal bossing
HP:0002033Poor suck
HP:0002209Sparse scalp hair
HP:0003186Inverted nipples
HP:0003473Fatigable weakness
HP:0004442Sagittal craniosynostosis
HP:0004684Talipes valgus
HP:0005048Synostosis of carpal bones
HP:0006610Wide intermamillary distance
HP:0008598Mild conductive hearing impairment
HP:0008947Floppy infant
HP:0009739Hypoplasia of the antihelix
HP:0009778Short thumb
HP:0010044Short 4th metacarpal
HP:0010767Sacrococcygeal pilonidal abnormality
HP:0011470Nasogastric tube feeding in infancy
HP:0025193Posterolateral diaphragmatic hernia
HP:0030043Hip subluxation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)